Limb disorders
Gene: KCNN3
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 1:37 p.m. | Last Modified: 30 Jan 2023, 1:37 p.m.
Panel Version: 3.6
Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update - sufficient unrelated cases to establish causation. Mild end of the radial ray spectrum from reports to date, however included.Created: 1 Mar 2021, 11:35 a.m. | Last Modified: 1 Mar 2021, 11:35 a.m.
Panel Version: 2.38
Associated with 'Zimmermann-Laband syndrome' in OMIM (MIM# 618658) and Gene2Phenotype ('probable' disease confidence rating).
At least 6 unrelated individuals with different gain-of-function KCNN3 variants (PMIDs: 31155282 and 33594261). Phenotypes include mild-to-moderate DD and/or ID, coarse facial features, gingival enlargement, distal digital hypoplasia and hypertrichosis. Radial ray defects mostly within the milder end of the spectrum but do include hypoplasia of the terminal phalanges and aplasia/hypoplasia of nails on hands and feet.
Sources: LiteratureCreated: 1 Mar 2021, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Zimmermann-Laband syndrome 3, OMIM:618658; Zimmermann-laband syndrome 3, MONDO:0032854
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Tag Q2_21_rating was removed from gene: KCNN3.
Source Expert Review Green was added to KCNN3. Source NHS GMS was added to KCNN3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: kcnn3 has been classified as Amber List (Moderate Evidence).
gene: KCNN3 was added gene: KCNN3 was added to Limb disorders. Sources: Literature Q2_21_rating tags were added to gene: KCNN3. Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNN3 were set to 31155282; 33594261 Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3, OMIM:618658; Zimmermann-laband syndrome 3, MONDO:0032854 Mode of pathogenicity for gene: KCNN3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: KCNN3 was set to GREEN