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Congenital Heart Defect
Gene: MESP1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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.
Created: 11 Apr 2021, 6:57 a.m. | Last Modified: 11 Apr 2021, 6:57 a.m.

Panel Version: 0.100

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart disease

Publications

Created: 11 Apr 2021, 6:57 a.m.
Last Modified: 11 Apr 2021, 6:57 a.m.
Panel version: 0.100

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Congenital heart disease, MONDO:0005453, MESP1-related

OMIM

Clinvar variants

Variants in MESP1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Nov 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MESP1 were changed from Congenital heart disease, MONDO:0005453, MESP1-related to Congenital heart disease, MONDO:0005453, MESP1-related

24 Nov 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MESP1 were changed from Congenital heart disease to Congenital heart disease, MONDO:0005453, MESP1-related

11 Apr 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).

11 Apr 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MESP1 were changed from to Congenital heart disease

11 Apr 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MESP1 were set to

11 Apr 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MESP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Apr 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MESP1 was added gene: MESP1 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MESP1 was set to Unknown