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BORCS8

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green BORCS8 in Optic neuropathy Level 2: Ophthalmology Version 6.47 Latest signed off version: v6.46 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987
Green BORCS8 in Hereditary spastic paraplegia, childhood onset Level 2: Neurology Version 9.8 Latest signed off version: v9.7 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987
Red BORCS8 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.1 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
Green BORCS8 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease
Amber BORCS8 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.57 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987 Tags watchlist
Green BORCS8 in Intellectual disability Level 2: Developmental disorders Version 11.1 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987