Combined Immunodeficiency
Gene: GUK1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 21, MIM# 621071
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: LiteratureCreated: 7 Dec 2024, 2:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related
Publications
Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071
Gene: guk1 has been classified as Amber List (Moderate Evidence).
Gene: guk1 has been classified as Amber List (Moderate Evidence).
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