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Fetal anomalies

Gene: MESP1

Amber List (moderate evidence)

MESP1 (mesoderm posterior bHLH transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000166823
EnsemblGeneIds (GRCh37): ENSG00000166823
OMIM: 608689, Gene2Phenotype
MESP1 is in 3 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

Gene last reviewed April 2021 - Rare/novel variants reported in at least 7 unrelated individuals with congenital heart disease, in-silicos conflicting, familial segregation only available for some (one de novo, three inherited, others unresolved). Functional data implicates gene in cardiac development.

No additional published evidence.
Sources: Literature, Expert list
Created: 20 Dec 2021, 1:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart disease

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Literature
Phenotypes
  • Congenital heart disease
OMIM
608689
Clinvar variants
Variants in MESP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mesp1 has been classified as Amber List (Moderate Evidence).

20 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mesp1 has been classified as Amber List (Moderate Evidence).

20 Dec 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: MESP1 was added gene: MESP1 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: MESP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MESP1 were set to 28677747; 28050627; 27185833; 26694203 Phenotypes for gene: MESP1 were set to Congenital heart disease Review for gene: MESP1 was set to AMBER