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  2. Structural eye disease
  3. SNX3
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Structural eye disease

Gene: SNX3

Red List (low evidence)
SNX3 (sorting nexin 3)
EnsemblGeneIds (GRCh38): ENSG00000112335
EnsemblGeneIds (GRCh37): ENSG00000112335
OMIM: 605930, Gene2Phenotype
SNX3 is in 3 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

Vervoort 2002: SNX3 disrupted by a balanced translocation in a patient with microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP). Kumar 2007: SNX3 was sequenced in three MMEP patients not previously studied for this gene and did NOT find any mutation.
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91

Publications

Created: 2 Oct 2019, 3:48 p.m.
Last Modified: 2 Oct 2019, 3:48 p.m.
Panel version: 0.91

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Microphthalmia, Syndromic 8,MCOPS8

Created: 23 Apr 2019, 2:12 p.m.

Panel version: 0.60

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
Phenotypes
  • No OMIM
  • Microphthalmia, Syndromic 8, MCOPS8, 601349
OMIM
605930
Clinvar variants
Variants in SNX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Oct 2019, Gel status: 1

Added New Source, Added New Source, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SNX3. Source Expert Review Red was added to SNX3. Publications for gene SNX3 were changed from to 12471201 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

16 Sep 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to SNX3. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: SNX3 was added gene: SNX3 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: SNX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNX3 were set to No OMIM; Microphthalmia, Syndromic 8, MCOPS8, 601349