Genomics England
GMS Panels
Panels
Genes and Entities

BORCS8

BLOC-1 related complex subunit 8
OMIM: 616601
PanelMode of inheritanceDetails
3 panels
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 7.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987