Polydactyly

Gene: MKS1

Green List (high evidence)

MKS1 (Meckel syndrome, type 1)
EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 19 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established ciliopathy gene, two families reported with BBS phenotype.
Created: 10 Oct 2020, 8:48 a.m. | Last Modified: 10 Oct 2020, 8:48 a.m.
Panel Version: 0.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441

Publications

Anand Vasudevan (Royal Women's Hospital)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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: MKS1 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: MKS1 was added gene: MKS1 was added to Polydactyly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MKS1 was set to Unknown