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Primary immunodeficiency

Gene: GIMAP6

Red List (low evidence)

GIMAP6 (GTPase, IMAP family member 6)
EnsemblGeneIds (GRCh38): ENSG00000133561
EnsemblGeneIds (GRCh37): ENSG00000133561
OMIM: 616960, Gene2Phenotype
GIMAP6 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Boaz Palterer. Biallelic variant identified in a patient with lymphopenia and recurrent infections. The same variant was detected in an asymptomatic older sibling and although authors state that GIMAP6 was the best candidate to explain the clinical phenotype in the affected individual, homozygous variants were also identified in 8 other genes (PMID: 33328581). Therefore, there is only enough evidence for a Red rating at present.
Created: 4 Jan 2021, 12:47 p.m. | Last Modified: 4 Jan 2021, 12:48 p.m.
Panel Version: 2.388

Boaz Palterer (University of Florence)

Red List (low evidence)

Two siblings with an homozygous variant in GIMAP6 and absent protein expression. One with lymphopenia and recurrent sinopulmonary infections, the other clinically asymptomatic.
Sources: Literature
Created: 18 Dec 2020, 6:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lymphopenia; Sinopulmonary Infections

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Lymphopenia
  • Sinopulmonary Infections
OMIM
616960
Clinvar variants
Variants in GIMAP6
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

4 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: gimap6 has been classified as Red List (Low Evidence).

18 Dec 2020, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: GIMAP6 was added gene: GIMAP6 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: GIMAP6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GIMAP6 were set to 33328581 Phenotypes for gene: GIMAP6 were set to Lymphopenia; Sinopulmonary Infections Penetrance for gene: GIMAP6 were set to unknown Review for gene: GIMAP6 was set to RED