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  2. Bone Marrow Failure
  3. GIMAP5
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Bone Marrow Failure

Gene: GIMAP5

Green List (high evidence)
GIMAP5 (GTPase, IMAP family member 5)
EnsemblGeneIds (GRCh38): ENSG00000196329
EnsemblGeneIds (GRCh37): ENSG00000196329
OMIM: 608086, Gene2Phenotype
GIMAP5 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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.
Sources: Expert list
Created: 4 Aug 2021, 7:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Portal hypertension, noncirrhotic, 2, MIM# 619463

Publications

Created: 4 Aug 2021, 7:43 a.m.

Panel version: 1.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Portal hypertension, noncirrhotic, 2, MIM# 619463
OMIM
608086
Clinvar variants
Variants in GIMAP5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gimap5 has been classified as Green List (High Evidence).

4 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gimap5 has been classified as Green List (High Evidence).

4 Aug 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GIMAP5 was added gene: GIMAP5 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: GIMAP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GIMAP5 were set to 33956074 Phenotypes for gene: GIMAP5 were set to Portal hypertension, noncirrhotic, 2, MIM# 619463 Review for gene: GIMAP5 was set to GREEN