Lipodystrophy_Lipoatrophy
Gene: KCNJ6

KCNJ6 (potassium voltage-gated channel subfamily J member 6)
EnsemblGeneIds (GRCh38): ENSG00000157542
EnsemblGeneIds (GRCh37): ENSG00000157542
OMIM: 600877, Gene2Phenotype
KCNJ6 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.

Four unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model. One of the individuals did not have lipodystrophy but had a prominent hyperkinetic movement disorder.
Created: 27 Apr 2021, 8:14 a.m. | Last Modified: 27 Apr 2021, 8:23 a.m.

Panel Version: 0.57

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Keppen-Lubinsky syndrome, MIM# 614098; MONDO:0013572

Publications

Created: 27 Apr 2021, 8:14 a.m.
Last Modified: 27 Apr 2021, 8:23 a.m.
Panel version: 0.57

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Keppen-Lubinsky syndrome, MIM# 614098
MONDO:0013572

OMIM

600877

Clinvar variants

Variants in KCNJ6

Penetrance

None

Publications

Panels with this gene