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Mendeliome

Gene: RASGRP1

Green List (high evidence)

RASGRP1 (RAS guanyl releasing protein 1)
EnsemblGeneIds (GRCh38): ENSG00000172575
EnsemblGeneIds (GRCh37): ENSG00000172575
OMIM: 603962, Gene2Phenotype
RASGRP1 is in 4 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

>5 families reported
Created: 11 Apr 2022, 9:42 p.m. | Last Modified: 11 Apr 2022, 9:42 p.m.
Panel Version: 0.12855

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 64 (MIM#618534)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 64 (MIM#618534)
OMIM
603962
Clinvar variants
Variants in RASGRP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rasgrp1 has been classified as Green List (High Evidence).

14 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RASGRP1 were changed from to Immunodeficiency 64 (MIM#618534)

14 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RASGRP1 were set to

14 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RASGRP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RASGRP1 was added gene: RASGRP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RASGRP1 was set to Unknown