Lipodystrophy - childhood onset

Gene: KCNJ6

Amber List (moderate evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 10 May 2021, 12:54 p.m. | Last Modified: 10 May 2021, 12:54 p.m.
Panel Version: 2.14

Zornitza Stark (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.
Sources: Expert Review
Created: 27 Apr 2021, 10:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Keppen-Lubinsky syndrome, OMIM:614098
  • Keppen-Lubinsky syndrome, MONDO:0013572
Tags
Q2_21_rating
OMIM
600877
Clinvar variants
Variants in KCNJ6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: kcnj6 has been classified as Amber List (Moderate Evidence).

10 May 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: KCNJ6.

5 May 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KCNJ6 were changed from Keppen-Lubinsky syndrome, MIM# 614098; MONDO:0013572 to Keppen-Lubinsky syndrome, OMIM:614098; Keppen-Lubinsky syndrome, MONDO:0013572

27 Apr 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: KCNJ6 was added gene: KCNJ6 was added to Lipodystrophy - childhood onset. Sources: Expert Review Mode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ6 were set to 25620207; 29852244 Phenotypes for gene: KCNJ6 were set to Keppen-Lubinsky syndrome, MIM# 614098; MONDO:0013572 Review for gene: KCNJ6 was set to GREEN gene: KCNJ6 was marked as current diagnostic