Renal Ciliopathies and Nephronophthisis

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established ciliopathy gene, two families reported with BBS phenotype and renal cysts are a prominent feature of Meckel syndrome.
Created: 10 Oct 2020, 8:48 a.m. | Last Modified: 17 Jul 2021, 7:53 a.m.
Panel Version: 0.265

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441; Meckel syndrome 1, MIM# 249000

Publications

History Filter Activity

17 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mks1 has been classified as Green List (High Evidence).

17 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MKS1 were changed from to Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441; Meckel syndrome 1, MIM# 249000

17 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MKS1 were set to

17 Jul 2021, 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 Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: MKS1 was set to Unknown