BORCS8

BLOC-1 related complex subunit 8
OMIM: 616601, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green BORCS8 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987
Green BORCS8 in Optic Atrophy Level 2: Ophthalmological disorders Version 1.45 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987
Green BORCS8 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.573	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987
Green BORCS8 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987
Green BORCS8 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987