Hydrocephalus

Gene: SNX10

Green List (high evidence)

SNX10 (sorting nexin 10)
EnsemblGeneIds (GRCh38): ENSG00000086300
EnsemblGeneIds (GRCh37): ENSG00000086300
OMIM: 614780, Gene2Phenotype
SNX10 is in 3 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)

Three unrelated families, two mutations identified to date. Considered sufficient for causation. Macrocephaly or hydrocephalus reported
Created: 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
614780
Clinvar variants
Variants in SNX10
Penetrance
Complete
Publications
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 SNX10.

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).

9 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SNX10 was added to Hydrocephaluspanel. Source: Expert Review Green

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

SNX10 was created by helen.brittain

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

SNX10 was added to Hydrocephaluspanel. Sources: Literature