ATP6V0C

ATPase H+ transporting V0 subunit c
OMIM: 108745, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green ATP6V0C in Mendeliome Version 1.1891	review	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 1.269	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 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	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 0.522	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 0.6063	review	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