New & Updated Pages - Genetics Home Reference

New & Updated Pages - Genetics Home Reference

Updated Pages

February 21, 2017

• distal 18q deletion syndrome

February 14, 2017

• 2-methylbutyryl-CoA dehydrogenase deficiency
• ACADSB gene
• LIPA gene
• lysosomal acid lipase deficiency
• X-linked dilated cardiomyopathy

February 7, 2017

• CHARGE syndrome

January 31, 2017

• congenital hepatic fibrosis
• Emanuel syndrome
• KDM6A gene
• mitochondrial membrane protein-associated neurodegeneration

January 24, 2017

• autoimmune Addison disease
• SMARCB1 gene

January 17, 2017

• CLN3 disease
• CLN6 gene
• CLN8 disease
• CLN8 gene
• DNAJC5 gene
• familial dilated cardiomyopathy
• FKRP gene
• ISPD gene
• LARGE1 gene
• MFSD8 gene
• POMT1 gene
• POMT2 gene
• Walker-Warburg syndrome

January 3, 2017

• 16p11.2 duplication
• Miyoshi myopathy

December 28, 2016

• isolated Pierre Robin sequence

December 21, 2016

• early-onset myopathy with fatal cardiomyopathy

December 13, 2016

• ANOS1 gene
• CHD7 gene
• Kallmann syndrome
• PROK2 gene
• PROKR2 gene

December 6, 2016

• Laing distal myopathy

November 29, 2016

• sitosterolemia

November 22, 2016

• Duchenne and Becker muscular dystrophy
• hereditary paraganglioma-pheochromocytoma
• primary spontaneous pneumothorax
• Refsum disease
• Snyder-Robinson syndrome

November 15, 2016

• GLI3 gene
• Greig cephalopolysyndactyly syndrome
• Pallister-Hall syndrome
• RRM2B gene

November 1, 2016

• AIRE gene
• autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
• CLN10 disease
• CTSD gene

September 28, 2016

• chromosome 9
• preeclampsia
• Russell-Silver syndrome

September 20, 2016

• cerebrotendinous xanthomatosis
• CYP27A1 gene

September 8, 2016

• alternating hemiplegia of childhood

August 30, 2016

• hereditary diffuse gastric cancer

August 23, 2016

• age-related macular degeneration

August 16, 2016

• 15q13.3 microdeletion
• Lafora progressive myoclonus epilepsy
• mycosis fungoides
• steatocystoma multiplex

August 9, 2016

• epidermal nevus

August 2, 2016

• abdominal wall defect
• Klippel-Trenaunay syndrome
• PIK3CA gene

July 26, 2016

• LEPR gene
• leptin receptor deficiency
• multiple system atrophy

July 19, 2016

• African iron overload
• FOXG1 syndrome

July 12, 2016

• adenosine monophosphate deaminase deficiency
• AMPD1 gene
• Sjögren syndrome

June 28, 2016

• benign chronic pemphigus
• chromosome 3
• chromosome 19

June 20, 2016

• DLL3 gene
• MESP2 gene
• Noonan syndrome with multiple lentigines
• spondylocostal dysostosis
• spondylothoracic dysostosis

June 13, 2016

• myasthenia gravis
• systemic lupus erythematosus

June 6, 2016

• Ewing sarcoma
• Leigh syndrome
• surfactant dysfunction

May 30, 2016

• KRAS gene

May 24, 2016

• progressive external ophthalmoplegia
• Shprintzen-Goldberg syndrome
• SLC25A4 gene
• TWNK gene

May 9, 2016

• DICER1 syndrome
• Potocki-Shaffer syndrome

May 2, 2016

• congenital fiber-type disproportion
• mycosis fungoides

April 19, 2016

• antiphospholipid syndrome

April 11, 2016

• Moebius syndrome
• Poland syndrome
• tetrasomy 18p

March 28, 2016

• benign chronic pemphigus

March 21, 2016

• branchiootorenal/branchiootic syndrome
• EYA1 gene
• SIX1 gene
• SIX5 gene

March 14, 2016

• enlarged parietal foramina
• MSX2 gene
• pseudohypoaldosteronism type 2
• WNK4 gene

March 7, 2016

• C9orf72 gene
• EZH2 gene
• FUS gene
• TARDBP gene
• Weaver syndrome

February 29, 2016

• tumor necrosis factor receptor-associated periodic syndrome

February 22, 2016

• IDH1 gene
• Maffucci syndrome
• MECP2-related severe neonatal encephalopathy