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Primary immunodeficiency

Gene: GIMAP5

Amber List (moderate evidence)

GIMAP5 (GTPase, IMAP family member 5)
EnsemblGeneIds (GRCh38): ENSG00000196329
EnsemblGeneIds (GRCh37): ENSG00000196329
OMIM: 608086, Gene2Phenotype
GIMAP5 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Boaz Palterer. 4 unrelated families with an immunodeficiency disorder and difference biallelic LoF variants in the GIMAP5 gene. Clinical improvement in Gimap5-deficient mice and a human patient was observed following treatment with rapamycin (mTORC1 inhibitor)

Although there are sufficient cases with a relevant phenotype, rating this gene Amber while pending publication of the Park 2021 article, as information can change from the initial bioRxiv upload to peer-reviewed publication. Added 'watchlist' tag and will re-curate when the paper is published.
Created: 1 Apr 2021, 10:40 a.m. | Last Modified: 1 Apr 2021, 10:40 a.m.
Panel Version: 2.405

Boaz Palterer (University of Florence)

Red List (low evidence)

Park et al. (https://www.biorxiv.org/content/10.1101/2021.02.22.432146v1.full.pdf) identified biallelic mutations in GIMAP5 in 10 subjects from 4 kindreds with severe progressive
lymphopenia, autoimmunity, immunodeficiency, and liver disease
Sources: Literature
Created: 24 Feb 2021, 9:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
lymphopenia; autoimmunity; immunodeficiency; liver disease

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • lymphopenia
  • autoimmunity
  • immunodeficiency
  • liver disease
Tags
treatable watchlist
OMIM
608086
Clinvar variants
Variants in GIMAP5
Penetrance
unknown
Panels with this gene

History Filter Activity

1 Apr 2021, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag treatable tag was added to gene: GIMAP5. Tag watchlist tag was added to gene: GIMAP5.

1 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: gimap5 has been classified as Amber List (Moderate Evidence).

24 Feb 2021, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: GIMAP5 was added gene: GIMAP5 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: GIMAP5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GIMAP5 were set to lymphopenia; autoimmunity; immunodeficiency; liver disease Penetrance for gene: GIMAP5 were set to unknown Review for gene: GIMAP5 was set to RED