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Last 12 months

May 20, 2013

Condition: Coffin-Siris syndrome
Condition: DICER1 syndrome
Condition: factor V deficiency
Condition: Mainzer-Saldino syndrome
Condition: Pearson marrow-pancreas syndrome
Condition: sitosterolemia
Gene: ABCG5: ATP-binding cassette, sub-family G (WHITE), member 5
Gene: ABCG8: ATP-binding cassette, sub-family G (WHITE), member 8
Gene: ARID1A: AT rich interactive domain 1A (SWI-like)
Gene: ARID1B: AT rich interactive domain 1B (SWI1-like)
Gene: DICER1: dicer 1, ribonuclease type III
Gene: IFT140: intraflagellar transport 140 homolog (Chlamydomonas)
Gene: SMARCA4: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Gene: SMARCB1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Gene: SMARCE1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1

May 13, 2013

Condition: Carpenter syndrome
Gene: EPCAM: epithelial cell adhesion molecule
Gene: MEGF8: multiple EGF-like-domains 8
Gene: RAB23: RAB23, member RAS oncogene family

May 6, 2013

Condition: Baraitser-Winter syndrome
Gene: ACTB: actin, beta

April 29, 2013

Condition: progressive pseudorheumatoid dysplasia
Gene: WISP3: WNT1 inducible signaling pathway protein 3

April 16, 2013

Condition: autosomal recessive hypotrichosis
Condition: Caffey disease
Condition: desmoid tumor
Condition: Horner syndrome
Condition: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (often shortened to IMAGe syndrome)
Condition: multiple sclerosis
Condition: Ohdo syndrome, Maat-Kievit-Brunner type
Gene: HLA-DRB1: major histocompatibility complex, class II, DR beta 1
Gene: IL7R: interleukin 7 receptor
Gene: LIPH: lipase, member H
Gene: LPAR6: lysophosphatidic acid receptor 6
Gene family: fibronectin type III domain containing

April 9, 2013

Condition: Poland syndrome
Condition: type 1 diabetes

March 25, 2013

What is the prognosis of a genetic condition?
Condition: Denys-Drash syndrome
Condition: Frasier syndrome
Gene: BDNF: brain-derived neurotrophic factor
Gene: KANSL1: KAT8 regulatory NSL complex subunit 1

March 18, 2013

Condition: familial pityriasis rubra pilaris
Gene: CARD14: caspase recruitment domain family, member 14

March 4, 2013

Condition: familial hypertrophic cardiomyopathy
Condition: glycogen storage disease type IV
Condition: Liddle syndrome
Condition: mycosis fungoides
Condition: myosin storage myopathy
Condition: Rotor syndrome
Condition: Sézary syndrome
Gene: MYBPC3: myosin binding protein C, cardiac
Gene: SLCO1B1: solute carrier organic anion transporter family, member 1B1
Gene: SLCO1B3: solute carrier organic anion transporter family, member 1B3
Gene: TNNT2: troponin T type 2 (cardiac)
Gene family: myosin superfamily
Gene family: MYBP

February 25, 2013

Condition: Shprintzen-Goldberg syndrome
Gene: SKI: v-ski sarcoma viral oncogene homolog (avian)
Gene family: SKOR

February 18, 2013

Condition: X-linked thrombocytopenia

February 11, 2013

Condition: PDGFRB-associated chronic eosinophilic leukemia
Condition: piebaldism
Gene: ETV6: ets variant 6
Gene: PDGFRB: platelet-derived growth factor receptor, beta polypeptide
Gene: SLC20A2: solute carrier family 20 (phosphate transporter), member 2

February 4, 2013

Condition: arterial tortuosity syndrome
Condition: auriculo-condylar syndrome
Condition: genitopatellar syndrome
Condition: MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
Condition: Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant (often shortened to Ohdo syndrome, SBBYS variant)
Gene: GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
Gene: KAT6B: K(lysine) acetyltransferase 6B
Gene: MPV17: MpV17 mitochondrial inner membrane protein
Gene: PLCB4: phospholipase C, beta 4
Gene: SLC2A10: solute carrier family 2 (facilitated glucose transporter), member 10
Gene family: chromatin-modifying enzymes

January 28, 2013

Condition: combined malonic and methylmalonic aciduria (often shortened to CMAMMA)
Gene: ACSF3: acyl-CoA synthetase family member 3
Gene family: ACS

January 17, 2013

Condition: Myhre syndrome

January 7, 2013

Condition: Cantú syndrome
Condition: juvenile primary osteoporosis
Condition: osteoporosis-pseudoglioma syndrome
Condition: spinal muscular atrophy with respiratory distress type 1 (often shortened to SMARD1)
Gene: ABCC9: ATP-binding cassette, sub-family C (CFTR/MRP), member 9
Gene: DYNC1H1: dynein, cytoplasmic 1, heavy chain 1
Gene family: DYN

December 17, 2012

Condition: Floating-Harbor syndrome
Condition: hereditary diffuse leukoencephalopathy with spheroids (often shortened to HDLS)
Gene: CSF1R: colony stimulating factor 1 receptor
Gene: SRCAP: Snf2-related CREBBP activator protein

December 11, 2012

What is the epigenome?
How are genetic conditions diagnosed?
How are genetic conditions treated or managed?
What is genetic ancestry testing?
What advances are being made in DNA sequencing?
Condition: Lujan syndrome
Condition: task-specific focal dystonia
Condition: Weyers acrofacial dysostosis

December 2, 2012

Condition: Bart-Pumphrey syndrome
Condition: congenital insensitivity to pain
Condition: Dowling-Degos disease
Condition: hereditary sensory and autonomic neuropathy type IE
Condition: hystrix-like ichthyosis with deafness
Condition: keratitis-ichthyosis-deafness syndrome
Condition: palmoplantar keratoderma with deafness
Condition: paroxysmal extreme pain disorder
Condition: small fiber neuropathy
Condition: Vohwinkel syndrome
Gene: DNMT1: DNA (cytosine-5-)-methyltransferase 1
Gene: LOR: loricrin
Gene: SCN10A: sodium channel, voltage-gated, type X, alpha subunit

November 19, 2012

Condition: congenital deafness with labyrinthine aplasia, microtia, and microdontia (often shortened to LAMM syndrome)
Condition: familial HDL deficiency
Gene: APOA1: apolipoprotein A-I
Gene: FGF3: fibroblast growth factor 3

November 5, 2012

Condition: Bietti crystalline dystrophy
Condition: Potocki-Shaffer syndrome
Condition: primary spontaneous pneumothorax
Gene: CYP4V2: cytochrome P450, family 4, subfamily V, polypeptide 2

October 30, 2012

Condition: hypermanganesemia with dystonia, polycythemia, and cirrhosis (often shortened to HMDPC)
Gene: SLC30A10: solute carrier family 30, member 10

October 23, 2012

Condition: adenine phosphoribosyltransferase deficiency
Condition: CHST3-related skeletal dysplasia
Condition: cytochrome c oxidase deficiency
Condition: fatty acid hydroxylase-associated neurodegeneration
Condition: hereditary pancreatitis
Condition: maternally inherited diabetes and deafness (often shortened to MIDD)
Condition: 1q21.1 microdeletion
Gene: APRT: adenine phosphoribosyltransferase
Gene: CHST3: carbohydrate (chondroitin 6) sulfotransferase 3
Gene: FA2H: fatty acid 2-hydroxylase
Gene: MT-TE: mitochondrially encoded tRNA glutamic acid
Gene: PRSS1: protease, serine, 1 (trypsin 1)
Gene family: TRNA
Gene family: SULTM
Gene family: PRSS

October 15, 2012

Condition: familial osteochondritis dissecans
Condition: ulcerative colitis
Gene: ACAN: aggrecan

October 8, 2012

Gene: RBM8A: RNA binding motif protein 8A

October 2, 2012

Condition: glycogen storage disease type IX
Gene: KLLN: killin, p53-regulated DNA replication inhibitor
Gene: PHKA1: phosphorylase kinase, alpha 1 (muscle)
Gene: PHKA2: phosphorylase kinase, alpha 2 (liver)
Gene: PHKB: phosphorylase kinase, beta
Gene: PHKG2: phosphorylase kinase, gamma 2 (testis)

September 24, 2012

Condition: Bannayan-Riley-Ruvalcaba syndrome
Condition: isodicentric chromosome 15 syndrome

September 18, 2012

What is the Encyclopedia of DNA Elements (ENCODE) Project?
Condition: branchio-oculo-facial syndrome
Condition: Dent disease
Condition: 9q22.3 microdeletion
Gene: CLCN5: chloride channel, voltage-sensitive 5
Gene: TFAP2A: transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)

September 10, 2012

Condition: familial hypobetalipoproteinemia
Condition: X-linked infantile spasm syndrome
Gene family: CDK

September 3, 2012

Condition: cold-induced sweating syndrome
Condition: esophageal atresia/tracheoesophageal fistula (often shortened to EA/TEF)
Condition: fragile X-associated primary ovarian insufficiency (often shortened to FXPOI)
Condition: fragile X-associated tremor/ataxia syndrome (often shortened to FXTAS)
Condition: Hirschsprung disease
Gene: CLCF1: cardiotrophin-like cytokine factor 1
Gene: CRLF1: cytokine receptor-like factor 1

August 22, 2012

Condition: Brown-Vialetto-Van Laere syndrome (often shortened to BVVLS)
Condition: craniofacial-deafness-hand syndrome
Condition: familial erythrocytosis
Condition: hyperferritinemia-cataract syndrome
Condition: hyperphosphatemic familial tumoral calcinosis
Gene: C9orf72: chromosome 9 open reading frame 72
Gene: EGLN1: egl nine homolog 1 (C. elegans)
Gene: EPAS1: endothelial PAS domain protein 1
Gene: EPOR: erythropoietin receptor
Gene: FUS: fused in sarcoma
Gene: GALNT3: UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)
Gene: KL: klotho
Gene: SLC52A3: solute carrier family 52, riboflavin transporter, member 3
Gene: TARDBP: TAR DNA binding protein
Gene family: ZMYND
Gene family: ARHGEF
Gene family: RNASE