Hydrocephalus
Gene: SNX10EnsemblGeneIds (GRCh38): ENSG00000086300
EnsemblGeneIds (GRCh37): ENSG00000086300
OMIM: 614780, Gene2Phenotype
SNX10 is in 6 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)
Three unrelated families, two mutations identified to date. Considered sufficient for causation. Macrocephaly or hydrocephalus reportedCreated: 9 May 2017, 1:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 8
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Osteopetrosis, autosomal recessive 8, OMIM:615085
- OMIM
- 614780
- Clinvar variants
- Variants in SNX10
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SNX10 were changed from Osteopetrosis, autosomal recessive 8 to Osteopetrosis, autosomal recessive 8, OMIM:615085
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SNX10.
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).
Added New Source
Ellen McDonagh (Genomics England Curator)SNX10 was added to Hydrocephaluspanel. Source: Expert Review Green
Created
Helen Brittain (Genomics England Curator)SNX10 was created by helen.brittain
Added New Source
Helen Brittain (Genomics England Curator)SNX10 was added to Hydrocephaluspanel. Sources: Literature