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  3. GUK1
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Combined Immunodeficiency

Gene: GUK1

Amber List (moderate evidence)
GUK1 (guanylate kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000143774
EnsemblGeneIds (GRCh37): ENSG00000143774
OMIM: 139270, Gene2Phenotype
GUK1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 21, MIM# 621071

Created: 28 Jan 2025, 1:50 a.m.
Last Modified: 28 Jan 2025, 1:50 a.m.
Panel version: 1.113

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Three cases from 2 unrelated families with biallelic variants leading to GUK1 deficiency had altered T-lymphocyte profiles, along with ptosis, ophthalmoparesis, myopathic proximal limb weakness, and variable hepatopathy. One additional case in this study had a normal lymphocyte profile.
Sources: Literature
Created: 7 Dec 2024, 2:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related

Publications

Created: 7 Dec 2024, 2:12 a.m.

Panel version: 1.111

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 21, MIM# 621071
OMIM
139270
Clinvar variants
Variants in GUK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2025, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071

7 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: guk1 has been classified as Amber List (Moderate Evidence).

7 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: guk1 has been classified as Amber List (Moderate Evidence).

7 Dec 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GUK1 was added gene: GUK1 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUK1 were set to 39230499 Phenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related Review for gene: GUK1 was set to AMBER