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Intellectual disability

Gene: KCNN3

No list

KCNN3 (potassium calcium-activated channel subfamily N member 3)
EnsemblGeneIds (GRCh38): ENSG00000143603
EnsemblGeneIds (GRCh37): ENSG00000143603
OMIM: 602983, Gene2Phenotype
KCNN3 is in 3 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated individuals reported.
Sources: Expert list
Created: 8 Feb 2020, 9:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Zimmermann-Laband syndrome 3; OMIM# 618658

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Zimmermann-Laband syndrome 3
  • OMIM# 618658
OMIM
602983
Clinvar variants
Variants in KCNN3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: KCNN3 was added gene: KCNN3 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNN3 were set to 31155282 Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3; OMIM# 618658 Review for gene: KCNN3 was set to GREEN gene: KCNN3 was marked as current diagnostic