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  2. Disorders of immune dysregulation
  3. RASGRP1
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Disorders of immune dysregulation

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

2 reviews

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

Created: 11 Apr 2022, 9:42 p.m.
Last Modified: 11 Apr 2022, 9:42 p.m.
Panel version: Imported from Mendeliome panel version 0.12855

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least four families reported; mouse model.
Sources: Expert list
Created: 12 Jan 2020, 2:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 64, MIM#618534

Publications

Created: 12 Jan 2020, 2:13 a.m.

Panel version: 0.17

Details

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

History Filter Activity

12 Jan 2020, 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).

12 Jan 2020, 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).

12 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RASGRP1 was added gene: RASGRP1 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RASGRP1 were set to 29155103; 28822832; 17675473; 27776107; 29282224 Phenotypes for gene: RASGRP1 were set to Immunodeficiency 64, MIM#618534 Review for gene: RASGRP1 was set to GREEN