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  3. SNRNP200
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Glaucoma (developmental)

Gene: SNRNP200

Red List (low evidence)
SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200)
EnsemblGeneIds (GRCh38): ENSG00000144028
EnsemblGeneIds (GRCh37): ENSG00000144028
OMIM: 601664, Gene2Phenotype
SNRNP200 is in 3 panels

2 reviews

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

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 33; 610359

Created: 19 Jun 2019, 3:32 p.m.

Panel version: Imported from Structural eye disease panel version 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 33, 610359

Created: 17 Apr 2019, 3:30 p.m.

Panel version: Imported from Structural eye disease panel version 0.48

Details

Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
OMIM
601664
Clinvar variants
Variants in SNRNP200
Penetrance
Complete
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

SNRNP200 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory