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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

3 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Now published:
8 individuals from 4 unrelated families reported with onset of disease in the first decade of life. Clinical features included jaundice, hyperbilirubinaemia, pancytopaenia, including neutropaenia, lymphopaenia, and thrombocytopaenia, hepatosplenomegaly, and oesophageal varices. Some individuals had recurrent infections or features suggestive of an immunodeficiency. Liver biopsy was notable for the absence of cirrhosis and the presence of nodular regeneration.
Created: 7 Aug 2021, 7:41 a.m. | Last Modified: 7 Aug 2021, 7:41 a.m.
Panel Version: 2.452

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Portal hypertension, noncirrhotic, 2, MIM# 619463

Publications

Arina Puzriakova (Genomics England Curator)

Cannot access new publication identified by Zornitza Stark (PMID:33956074) - free text will be available from 05/01/2022. OMIM entry states that "some patients may have recurrent infections or features suggestive of an immunodeficiency" but it is unclear how many individuals were affected and to what extent. Liver dysfunction (portal hypertension, liver failure) seems to be the more prominent phenotype in these cases but currently there are no relevant PanelApp panels for this. Therefore, I will maintain the Amber rating at this time, until publications become available or further evidence emerges.
Created: 12 Aug 2021, 11:18 a.m. | Last Modified: 12 Aug 2021, 11:18 a.m.
Panel Version: 2.455
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
  • Portal hypertension, noncirrhotic, 2, OMIM:619463
  • lymphopenia
  • autoimmunity
  • immunodeficiency
  • liver disease
Tags
treatable watchlist
OMIM
608086
Clinvar variants
Variants in GIMAP5
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

12 Aug 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GIMAP5 were changed from lymphopenia; autoimmunity; immunodeficiency; liver disease to Portal hypertension, noncirrhotic, 2, OMIM:619463; lymphopenia; autoimmunity; immunodeficiency; liver disease

12 Aug 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: GIMAP5 were set to

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