Differences of Sex Development
Gene: MKKS

MKKS (McKusick-Kaufman syndrome)
EnsemblGeneIds (GRCh38): ENSG00000125863
EnsemblGeneIds (GRCh37): ENSG00000125863
OMIM: 604896, Gene2Phenotype
MKKS is in 16 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

DSD is not a significant feature of these conditions.
Created: 15 Jul 2020, 7:03 a.m. | Last Modified: 15 Jul 2020, 7:03 a.m.

Panel Version: 0.96

Phenotypes
Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome (MIM#236700)

Created: 15 Jul 2020, 7:03 a.m.
Last Modified: 15 Jul 2020, 7:03 a.m.
Panel version: 0.96

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

>5 families reported. Genitourinary anomalies are features of the both associated phenotypes (OMIM) however does not seem to be a significant or consistent feature.

PMID: 10973251: 7 BBS families.

PMID: 26900326: 2 siblings reported with a variant in this gene. Patients had normal sexual development

PMID: 10973238: 4 families reported. Hypogonadism was not reported in any of the families. 1 patient presented with hypospadias.

Not in IHH and DSD panel (GEL)
Created: 15 Jul 2020, 12:40 a.m. | Last Modified: 15 Jul 2020, 12:40 a.m.

Panel Version: 0.69

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome (MIM#236700)

Publications

Created: 15 Jul 2020, 12:40 a.m.
Last Modified: 15 Jul 2020, 12:40 a.m.
Panel version: 0.69

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Bardet-Biedl syndrome 6 (MIM#605231)
McKusick-Kaufman syndrome (MIM#236700)

OMIM

604896

Clinvar variants

Variants in MKKS

Penetrance

None

Publications

Panels with this gene