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Limb disorders

Gene: GRIP1

Green List (high evidence)

GRIP1 (glutamate receptor interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000155974
EnsemblGeneIds (GRCh37): ENSG00000155974
OMIM: 604597, Gene2Phenotype
GRIP1 is in 14 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Fraser syndrome 3 includes Cutaneous syndactyly, partial bilateral and short fingers, short toes. This gene-disease association is not found in Gene2Phenotype. PMID: 24357607 - an additional two family reports, with homozygous variants found in this gene in the affected probands with cutaneous syndactyly, resulting in four unrelated family reports.
Created: 7 Nov 2018, 1:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fraser syndrome 3 617667

Publications

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Fraser syndrome 3 includes Cut

7 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: grip1 has been classified as Green List (High Evidence).

7 Nov 2018, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to GRIP1. Mode of inheritance for gene GRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fraser syndrome 3 617667 for gene: GRIP1 Publications for gene GRIP1 were changed from to 22510445; 24357607 Rating Changed from Red List (low evidence) to Green List (high evidence)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GRIP1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

GRIP1 was created by Ellen McDonagh