1. Panels
  2. Hydrops fetalis
  3. MAPK1
STRs in panel
Prev Next
Regions in panel
Prev Next

Hydrops fetalis

Gene: MAPK1

Amber List (moderate evidence)
MAPK1 (mitogen-activated protein kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000100030
EnsemblGeneIds (GRCh37): ENSG00000100030
OMIM: 176948, Gene2Phenotype
MAPK1 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Hydrops not specifically reported, hence Amber rating, but Rasopathies commonly present with hydrops.
Created: 15 Mar 2022, 5:36 a.m. | Last Modified: 15 Mar 2022, 5:36 a.m.
Panel Version: 0.221

Phenotypes
Noonan syndrome 13 MIM#619087

Created: 15 Mar 2022, 5:36 a.m.
Last Modified: 15 Mar 2022, 5:36 a.m.
Panel version: 0.221

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32721402 - GOF de novo missense variants reported in Noonan patients. Patients showed DD, ID, craniofacial abnormalities and CHD

Supported by K/I mouse model
Sources: Literature
Created: 15 Mar 2022, 12:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Noonan syndrome 13 MIM#619087

Publications

Created: 15 Mar 2022, 12:33 a.m.

Panel version: 0.220

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Noonan syndrome 13 MIM#619087
OMIM
176948
Clinvar variants
Variants in MAPK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mapk1 has been classified as Amber List (Moderate Evidence).

15 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: mapk1 has been classified as Amber List (Moderate Evidence).

15 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: mapk1 has been classified as Amber List (Moderate Evidence).

15 Mar 2022, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: MAPK1 was added gene: MAPK1 was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAPK1 were set to PMID: 32721402 Phenotypes for gene: MAPK1 were set to Noonan syndrome 13 MIM#619087 Review for gene: MAPK1 was set to GREEN