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Intellectual disability

Gene: BORCS8

Green List (high evidence)
BORCS8 (BLOC-1 related complex subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000254901
EnsemblGeneIds (GRCh37): ENSG00000254901
OMIM: 616601, Gene2Phenotype
BORCS8 is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.
Panel Version: 8.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 24 Feb 2025, 6:15 p.m.
Last Modified: 24 Feb 2025, 6:15 p.m.
Panel version: 8.97

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (3 unrelated families) for the promotion of this gene to green rating in the next GMS update.
Created: 18 Sep 2024, 1:21 p.m. | Last Modified: 18 Sep 2024, 1:21 p.m.
Panel Version: 7.32
PMID:38128568 reported five patients from three unrelated families with homozygous or compound heterozygous loss of function missense and PTC variants in BORCS8 gene. All of them (5/5) presented with hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy and dysmorphic features, while spasticity was present in 4/5 patients, and microcephaly, seizures and scoliosis were present in 3/5 patients. Optic atrophy was reported in all four patients assessed.

Zebrafish knockout of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human phenotype. In addition, functional evidence from HEK293T cells were reported for both missense and PTC variants.

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet associated with any phenotypes in OMIM.
Sources: Literature
Created: 18 Sep 2024, 1:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

Created: 18 Sep 2024, 1:19 p.m.

Panel version: 7.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987
OMIM
616601
Clinvar variants
Variants in BORCS8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: BORCS8.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to BORCS8. Source Expert Review Green was added to BORCS8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

28 Oct 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: BORCS8 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987

28 Oct 2024, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked was removed from gene: BORCS8.

2 Oct 2024, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: BORCS8.

18 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: borcs8 has been classified as Amber List (Moderate Evidence).

18 Sep 2024, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: BORCS8.

18 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: BORCS8 was added gene: BORCS8 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BORCS8 were set to 38128568 Phenotypes for gene: BORCS8 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: BORCS8 was set to GREEN