New & Updated Pages - Genetics Home Reference

New & Updated Pages - Genetics Home Reference

New & Updated Pages

New Pages

May 30, 2017

• beta-propeller protein-associated neurodegeneration
• WDR45 gene

May 16, 2017

• generalized pustular psoriasis
• IL36RN gene

May 9, 2017

• FBXL4 gene
• FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
• MAOA gene
• monoamine oxidase A deficiency
• PADI3 gene
• TCHH gene
• TGM3 gene
• uncombable hair syndrome

May 2, 2017

• 17q12 deletion syndrome
• HNF1B gene
• LHX1 gene

April 25, 2017

• 17q12 duplication
• ACAD9 deficiency
• ACAD9 gene

April 18, 2017

• COQ4 gene
• COQ6 gene
• COQ8A gene
• COQ8B gene
• primary coenzyme Q10 deficiency

April 11, 2017

• KCTD1 gene
• scalp-ear-nipple syndrome

April 4, 2017

• ADNP gene
• ADNP syndrome
• ankyrin-B syndrome
• DEPDC5 gene
• familial focal epilepsy with variable foci
• glycoprotein VI deficiency
• GP6 gene
• NPRL2 gene
• NPRL3 gene

March 21, 2017

• TGFB3 gene

March 14, 2017

• FZD6 gene
• nonsyndromic congenital nail disorder 10
• Pyle disease
• SFRP4 gene

March 7, 2017

• GNAQ gene
• IL31RA gene
• OSMR gene
• primary localized cutaneous amyloidosis
• SATB2-associated syndrome
• SATB2 gene
• Sturge-Weber syndrome

February 21, 2017

• CLPB deficiency
• CLPB gene
• Omenn syndrome
• proximal 18q deletion syndrome
• RAG1 gene
• RAG2 gene

February 14, 2017

• fundus albipunctatus
• RDH5 gene

February 7, 2017

• FAM111B gene
• hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis

January 31, 2017

• AKT3 gene
• BAP1 gene
• BAP1 tumor predisposition syndrome
• CCND2 gene
• megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
• PIK3R2 gene

January 24, 2017

• Kaufman oculocerebrofacial syndrome
• LZTR1 gene
• schwannomatosis
• UBE3B gene

January 17, 2017

• CLN5 disease
• CLN6 disease
• CLN7 disease

January 10, 2017

• acrocallosal syndrome
• brain-lung-thyroid syndrome
• HIVEP2 gene
• HIVEP2-related intellectual disability
• KIF7 gene
• NKX2-1 gene

December 13, 2016

• ASXL1 gene
• Bohring-Opitz syndrome
• CHD2 gene
• CHD2 myoclonic encephalopathy
• FGF8 gene
• OTULIN gene
• otulipenia

November 29, 2016

• RNAse T2-deficient leukoencephalopathy
• RNASET2 gene

November 15, 2016

• non-alcoholic fatty liver disease
• PNPLA3 gene
• RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy

November 8, 2016

• encephalocraniocutaneous lipomatosis

November 1, 2016

• bipolar disorder
• central precocious puberty
• MKRN3 gene

October 25, 2016

• intervertebral disc disease

October 18, 2016

• Boucher-Neuhäuser syndrome
• epilepsy-aphasia spectrum
• F7 gene
• factor VII deficiency
• GRIN2A gene
• Hartsfield syndrome
• PNPLA6 gene

September 28, 2016

• ABL1 gene
• BCR gene
• CA5A gene
• carbonic anhydrase VA deficiency
• CARD9 gene
• chronic myeloid leukemia
• familial candidiasis
• IL17RC gene
• STAT1 gene

September 20, 2016

• EARS2 gene
• leukoencephalopathy with thalamus and brainstem involvement and high lactate
• Liebenberg syndrome
• PITX1 gene

September 13, 2016

• autosomal dominant leukodystrophy with autonomic disease
• Dupuytren contracture
• familial partial lipodystrophy
• FOXP2 gene
• FOXP2-related speech and language disorder
• LMNB1 gene

September 8, 2016

• DCAF17 gene
• Woodhouse-Sakati syndrome

August 30, 2016

• Burn-McKeown syndrome
• immune thrombocytopenia
• TXNL4A gene
• X-linked cardiac valvular dysplasia

August 23, 2016

• cholangiocarcinoma

August 2, 2016

• acute necrotizing encephalopathy type 1
• congenital nephrotic syndrome
• lateral meningocele syndrome
• NPHS1 gene
• NPHS2 gene
• RANBP2 gene

July 26, 2016

• COQ2 gene

July 19, 2016

• ADGRE2 gene
• ECM1 gene
• lipoid proteinosis
• schizophrenia
• vibratory urticaria

July 4, 2016

• FERMT1 gene
• Kindler syndrome

June 28, 2016

• 3p deletion syndrome
• 19p13.13 deletion syndrome
• Bernard-Soulier syndrome
• GP1BA gene
• GP1BB gene
• GP9 gene

June 20, 2016

• action myoclonus–renal failure syndrome
• SCARB2 gene