Renal ciliopathies
Gene: MKKS

MKKS (McKusick-Kaufman syndrome)
EnsemblGeneIds (GRCh38): ENSG00000125863
EnsemblGeneIds (GRCh37): ENSG00000125863
OMIM: 604896, Gene2Phenotype
MKKS is in 19 panels

2 reviews

Beth Hoskins (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
236700

Publications

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

Created: 5 Nov 2017, 2:44 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Bardet-Biedl Syndrome" panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene is green on the Bardet-Biedl Syndrome panel (version 1.53).
Created: 4 Aug 2016, 3:52 p.m.

Created: 4 Aug 2016, 3:52 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.40

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Eligibility statement prior genetic testing
Expert list
Expert Review Green

Phenotypes

Bardet Biedl syndrome 6
236700

OMIM

604896

Clinvar variants

Variants in MKKS

Penetrance

None

Publications

Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: MKKS was added gene: MKKS was added to Renal ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MKKS were set to 10802661; 10973251; 10973238 Phenotypes for gene: MKKS were set to Bardet Biedl syndrome 6; 236700

Renal ciliopathies Gene: MKKS