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DDG2P

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease are moderate, biallelic_autosomal and loss of function (PMID:38128568). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03556.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 38128568).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM:620987.0; BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease; MONDO:0975837

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
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
OMIM
616601
Clinvar variants
Variants in BORCS8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: BORCS8 was changed from Other to None

28 Oct 2024, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked was removed from gene: BORCS8.

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

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

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: BORCS8 was added gene: BORCS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease Mode of pathogenicity for gene: BORCS8 was set to Other