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BabyScreen+ newborn screening

Gene: MKS1

Red List (low 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)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 28, MIM# 617121 MONDO:0014928; Meckel syndrome 1, MIM# 249000 MONDO:0009571; Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441

David Amor (Murdoch Children's Research Institute)

Red List (low evidence)

Gene-disease association: strong. Classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly

Severity: severe

Age of onset: congenital

Treatment: symptomatic only therefore exclude
Created: 30 Sep 2022, 12:15 a.m. | Last Modified: 30 Sep 2022, 12:15 a.m.
Panel Version: 0.270

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel syndrome

History Filter Activity

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mks1 has been classified as Red List (Low Evidence).

6 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MKS1 were changed from Meckel syndrome to Joubert syndrome 28, MIM# 617121 MONDO:0014928; Meckel syndrome 1, MIM# 249000 MONDO:0009571; Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mks1 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MKS1 was added gene: MKS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKS1 were set to Meckel syndrome