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  3. KCNJ6
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Fetal anomalies

Gene: KCNJ6

Red List (low evidence)
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)

Red List (low 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.

Clinical presentation is typically post-natal, with normal growth parameters at birth.
Created: 27 Apr 2021, 8:17 a.m. | Last Modified: 11 Feb 2022, 9:06 a.m.
Panel Version: 0.3309

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 27 Apr 2021, 8:17 a.m.
Last Modified: 11 Feb 2022, 9:06 a.m.
Panel version: 0.3309

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Keppen-Lubinsky syndrome, MIM# 614098
  • MONDO:0013572
OMIM
600877
Clinvar variants
Variants in KCNJ6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj6 has been classified as Red List (Low Evidence).

11 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNJ6 were set to

11 Feb 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNJ6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj6 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNJ6 was added gene: KCNJ6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNJ6 were set to KEPPEN-LUBINSKY SYNDROME