Hydrocephalus
Gene: OSTM1EnsemblGeneIds (GRCh38): ENSG00000081087
EnsemblGeneIds (GRCh37): ENSG00000081087
OMIM: 607649, Gene2Phenotype
OSTM1 is in 7 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
4 unrelated families, 2 mutations. Hydrocephalus seen in at least one familyCreated: 30 May 2017, 7:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 5 259720
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Osteopetrosis, autosomal recessive 5, OMIM:259720
- OMIM
- 607649
- Clinvar variants
- Variants in OSTM1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: OSTM1 were changed from Osteopetrosis, autosomal recessive 5 259720 to Osteopetrosis, autosomal recessive 5, OMIM:259720
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to OSTM1.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Helen Brittain (Genomics England Curator)OSTM1 was added to Hydrocephaluspanel. Sources: Literature
Created
Helen Brittain (Genomics England Curator)OSTM1 was created by helen.brittain