White matter disorders and cerebral calcification - narrow panel
Gene: BLOC1S1EnsemblGeneIds (GRCh38): ENSG00000135441
EnsemblGeneIds (GRCh37): ENSG00000135441
OMIM: 601444, Gene2Phenotype
BLOC1S1 is in 5 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Arina Puzriakova (Genomics England Curator)
Comment on list classification: After seeking consultation from the Helen Brittain (Genomics England Clinical Team) due to the limited details provided in the paper as well as lack of additional support albeit with a sufficient number of total cases with a consistent phenotype (PMID:33875846), it was decided that a Green rating on this panel is justified given the number of unrelated families presenting a relevant phenotype meets the criteria.Created: 31 Aug 2022, 2:17 p.m. | Last Modified: 31 Aug 2022, 2:17 p.m.
Panel Version: 1.244
Four individuals from three unrelated consanguineous families each reported with different homozygous variants in the BLOC1S1 gene. Heterozygous carrier sibling in one family was unaffected. Phenotypes observed include ID (4/4), leukodystrophy/abnormal myelination (4/4), seizures (3/4), optic atrophy (3/4), spasticity (3/4).Created: 28 Jul 2022, 2:40 p.m. | Last Modified: 28 Jul 2022, 2:40 p.m.
Panel Version: 3.1634
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Dmitrijs Rots (Children's Clinical University Hospital)
4 cases with similar phenotype and inheritance reported
Sources: LiteratureCreated: 16 Oct 2021, 1:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe intellectual disability; severe global developmental delay; epilepsy
Publications
- PMID: 33875846
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- severe intellectual disability
- severe global developmental delay
- epilepsy
- Tags
- OMIM
- 601444
- Clinvar variants
- Variants in BLOC1S1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag gene-checked tag was added to gene: BLOC1S1.
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_22_rating was removed from gene: BLOC1S1.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to BLOC1S1. Source Expert Review Green was added to BLOC1S1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: bloc1s1 has been classified as Amber List (Moderate Evidence).
Removed Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist was removed from gene: BLOC1S1. Tag Q3_22_rating tag was added to gene: BLOC1S1.
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: BLOC1S1 was added gene: BLOC1S1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature watchlist tags were added to gene: BLOC1S1. Mode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S1 were set to 33875846 Phenotypes for gene: BLOC1S1 were set to severe intellectual disability; severe global developmental delay; epilepsy Penetrance for gene: BLOC1S1 were set to unknown