Hydrocephalus

Gene: OSTM1

Green List (high evidence)

OSTM1 (osteopetrosis associated transmembrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000081087
EnsemblGeneIds (GRCh37): ENSG00000081087
OMIM: 607649, Gene2Phenotype
OSTM1 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Green
Created: 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)

Green List (high evidence)

4 unrelated families, 2 mutations. Hydrocephalus seen in at least one family
Created: 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 259720
OMIM
607649
Clinvar variants
Variants in OSTM1
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to OSTM1.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

OSTM1 was added to Hydrocephaluspanel. Sources: Literature

30 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

OSTM1 was created by helen.brittain