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  3. MKKS
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Skeletal dysplasia

Gene: MKKS

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 families reported with BBS phenotype, two with McKusick-Kaufman syndrome and one with isolated RP.
Created: 4 Jul 2021, 9:20 a.m. | Last Modified: 4 Jul 2021, 9:20 a.m.
Panel Version: 0.8195

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 4 Jul 2021, 9:20 a.m.
Last Modified: 4 Jul 2021, 9:20 a.m.
Panel version: Imported from Mendeliome panel version 0.8195

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 5 BBS families have been reported.
Created: 15 Jul 2020, 12:15 a.m. | Last Modified: 15 Jul 2020, 12:15 a.m.
Panel Version: 0.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 6 (MIM#605231)

Publications

Created: 15 Jul 2020, 12:15 a.m.
Last Modified: 15 Jul 2020, 12:15 a.m.
Panel version: Imported from Mendeliome panel version Imported from Ciliopathies panel version Imported from Bardet Biedl syndrome panel version 0.28

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Ataxia is not reported as a prominent feature of the phenotype. However, ataxia has been reported in at least 1 case with BBS6. There were four BBS6 cases reported in the publication, and 18/21 BBS cases had ataxia, therefore it is unknown if all 4 cases had ataxia.
Sources: Expert list
Created: 16 Jan 2020, 6:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 6, 605231

Publications

Created: 16 Jan 2020, 6:03 a.m.

Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 6, 605231
  • Polydactyly
  • McKusick-Kaufman syndrome, 236700
OMIM
604896
Clinvar variants
Variants in MKKS
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MKKS was added gene: MKKS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6, 605231; Polydactyly; McKusick-Kaufman syndrome, 236700