Polydactyly
Gene: MKKS
MKKS (McKusick-Kaufman syndrome)
EnsemblGeneIds (GRCh38): ENSG00000125863
EnsemblGeneIds (GRCh37): ENSG00000125863
OMIM: 604896, Gene2Phenotype
MKKS is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000125863
EnsemblGeneIds (GRCh37): ENSG00000125863
OMIM: 604896, Gene2Phenotype
MKKS is in 16 panels
2 reviews
Anand Vasudevan (Royal Women's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Crystle Lee (Victorian Clinical Genetics Services)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 604896
- Clinvar variants
- Variants in MKKS
- Penetrance
- None
- Panels with this gene
-
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Prepair 1000+
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Differences of Sex Development
- Bardet Biedl syndrome
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
- Severe early-onset obesity
History Filter Activity
21 Jul 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MKKS was added gene: MKKS was added to Polydactyly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MKKS was set to Unknown