Groopman et al 2019 - Genes with diagnostic variants
Gene: MKKS

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

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: MKKS; Inheritance: AR; Clinical diagnosis: Nephropathy of unknown origin; Genetic diagnosis: Bardet-Biedl syndrome 6; OMIM phenotype MIM no.: 605231; Number of cases: 1(compound heterozygous)
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.

Panel Version: 0.4

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert review red
Literature

Phenotypes

MIM 605231
Nephropathy of unknown origin
Bardet-Biedl syndrome 6

OMIM

604896

Clinvar variants

Variants in MKKS

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to MKKS.

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: MKKS was added gene: MKKS was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKKS were set to MIM 605231; Nephropathy of unknown origin; Bardet-Biedl syndrome 6

Groopman et al 2019 - Genes with diagnostic variants Gene: MKKS