BLOC1S1

biogenesis of lysosomal organelles complex 1 subunit 1
OMIM: 601444, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green BLOC1S1 in White matter disorders and cerebral calcification - narrow panel Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes severe intellectual disability severe global developmental delay epilepsy Tags gene-checked
Amber BLOC1S1 in Optic neuropathy Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.30 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes severe intellectual disability severe global developmental delay epilepsy Tags gene-checked
Amber BLOC1S1 in Childhood onset hereditary spastic paraplegia Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes severe intellectual disability severe global developmental delay epilepsy Tags gene-checked
Amber BLOC1S1 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.6 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes severe intellectual disability severe global developmental delay epilepsy Tags watchlist gene-checked
Green BLOC1S1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.9 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes severe intellectual disability severe global developmental delay epilepsy Tags gene-checked