Activity
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| Severe microcephaly v8.21 | KBTBD2 | Arina Puzriakova Classified gene: KBTBD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.21 | KBTBD2 | Arina Puzriakova Added comment: Comment on list classification: Adding to this panel as Amber as despite there being 3 unrelated cases, a specific description of the phenotype is not provided in one case (GDX6) making it challenging to make genotype-phenotype correlations. Microcephaly is reported in the other two individuals, however the severity is not specified. Based on the current evidence additional support is needed before this gene can be added to a diagnostic panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.21 | KBTBD2 | Arina Puzriakova Gene: kbtbd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.20 | KBTBD2 |
Arina Puzriakova gene: KBTBD2 was added gene: KBTBD2 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: KBTBD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KBTBD2 were set to 39313616 Phenotypes for gene: KBTBD2 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: KBTBD2 was set to AMBER Added comment: PMID: 39313616 (2024) - 3 unrelated cases with biallelic variants in this gene. Variants were LOF/missense compound het in 2 cases and homozygous LOF in the other case. Phenotypes include growth retardation (3/3), hyperglycemia and diabetes in an adolescent individual (1/3 - others thought to be too young to have developed diabetes), microcephaly (2/2), motor developmental delay. One individual had cardiomyopathy but also harboured an additional variant in MYH7 which could be contributing this phenotype. Knock down in mice resulted in elevated expression of p85α and a phenotype involving lipodystrophy, hepatic steatosis, insulin resistance, severe diabetes and growth retardation, which recapitulates some of the features observed in human cases. Sources: Literature |
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