New & Updated Pages - Genetics Home Reference

New & Updated Pages - Genetics Home Reference

New & Updated Pages

New Pages

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

May 30, 2016

• RIT1 gene

May 24, 2016

• Hartnup disease
• multiple myeloma
• RRM2B gene
• SLC6A19 gene

May 9, 2016

• PHF21A gene
• SYNGAP1 gene
• SYNGAP1-related intellectual disability

May 2, 2016

• HSPG2 gene
• Schwartz-Jampel syndrome

April 19, 2016

• 7q11.23 duplication syndrome
• LIFR gene
• Stüve-Wiedemann syndrome

April 11, 2016

• Blood group antigens
• Collagen proteoglycans
• Complement
• cryptogenic cirrhosis
• Cytochrome p450
• Endogenous ligands
• fibrochondrogenesis
• Gene Families
• Homeoboxes
• Human leukocyte antigens
• Keratins
• Mitochondrial respiratory chain complex
• Myosins
• Transfer RNAs

March 14, 2016

• CUL3 gene
• DOLK-congenital disorder of glycosylation
• DOLK gene
• KLHL3 gene

March 7, 2016

• 17 alpha-hydroxylase/17,20-lyase deficiency
• CYP17A1 gene

February 22, 2016

• Ollier disease