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  2. Autoimmune Lymphoproliferative Syndrome
  3. RASGRP1
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Autoimmune Lymphoproliferative Syndrome

Gene: RASGRP1

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID:29155103; 2 siblings Chet for Thr214Ile and Lys322*

PMID:39752212; 1x hom 'LoF' variant (unable to access paper)

PMID: 39278845; 1x patient from a cohort of autoimmune lymphoproliferative immunodeficiencies. Thr312Ala. did not indicate if homozygous or single hit

Amber due to quality of papers/journals
Sources: Literature
Created: 15 Jan 2025, 2:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 64 MIM#618534

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Jan 2025, 2:04 a.m.

Panel version: 0.27

Details

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

History Filter Activity

20 Jan 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rasgrp1 has been classified as Amber List (Moderate Evidence).

15 Jan 2025, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: rasgrp1 has been classified as Amber List (Moderate Evidence).

15 Jan 2025, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: RASGRP1 was added gene: RASGRP1 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RASGRP1 were set to 29155103; 39752212 Phenotypes for gene: RASGRP1 were set to Immunodeficiency 64 MIM#618534 Review for gene: RASGRP1 was set to AMBER gene: RASGRP1 was marked as current diagnostic