ATP6V0C

ATPase H+ transporting V0 subunit c
OMIM: 108745, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green ATP6V0C in Mendeliome Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, early-onset, with or without developmental delay, MIM#620465 Epilepsy Intellectual Disability microcephaly Tags SV/CNV
Green ATP6V0C in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Green ATP6V0C in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Phenotypes Epilepsy, early-onset, with or without developmental delay, MIM#620465 Epilepsy Intellectual Disability microcephaly Tags SV/CNV
Green ATP6V0C in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, early-onset, with or without developmental delay, MIM#620465 neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related
Green ATP6V0C in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, early-onset, with or without developmental delay, MIM#620465 Epilepsy Intellectual Disability microcephaly Tags SV/CNV