ATP11A

ATPase phospholipid transporting 11A
OMIM: 605868, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber ATP11A in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 24 , MIM# 619851
Green ATP11A in Mendeliome Version 2.0	5 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 24 , MIM# 619851Deafness, autosomal dominant 84 MIM#619810
Amber ATP11A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Focal Epilepsy MONDO:0005384
Green ATP11A in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Phenotypes Deafness, autosomal dominant 84, MIM# 619810 Auditory neuropathy, autosomal dominant 2, MIM# 620384
Amber ATP11A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 24 , MIM# 619851
Green ATP11A in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 24 , MIM# 619851
Amber ATP11A in Fetal anomalies Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 24 , MIM# 619851