Renal ciliopathies

Gene: MKKS

Green List (high evidence)

MKKS (McKusick-Kaufman syndrome)
EnsemblGeneIds (GRCh38): ENSG00000125863
EnsemblGeneIds (GRCh37): ENSG00000125863
OMIM: 604896, Gene2Phenotype
MKKS is in 23 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

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.

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