Bardet Biedl syndrome

Gene: MKKS

Green List (high evidence)

MKKS (McKusick-Kaufman syndrome)
EnsemblGeneIds (GRCh38): ENSG00000125863
EnsemblGeneIds (GRCh37): ENSG00000125863
OMIM: 604896, Gene2Phenotype
MKKS is in 24 panels

3 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 6 605231; McKusick-Kaufman syndrome 236700

Publications

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

15 Mar 2019, Gel status: 4

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MKKS were changed from Bardet-Biedl syndrome 6, 605231; Bardet Biedl syndrome 6, 236700; McKusick-Kaufman syndrome, 236700 to Bardet-Biedl syndrome 6, 605231; McKusick-Kaufman syndrome, 236700

15 Mar 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MKKS. Added phenotypes McKusick-Kaufman syndrome, 236700; Bardet-Biedl syndrome 6, 605231 for gene: MKKS Publications for gene MKKS were changed from to 10973251; 10802661

15 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: MKKS was added gene: MKKS was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKKS were set to Bardet Biedl syndrome 6, 236700