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  2. Cardiomyopathy_Paediatric
  3. SPRED2
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Cardiomyopathy_Paediatric

Gene: SPRED2

Amber List (moderate evidence)
SPRED2 (sprouty related EVH1 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000198369
EnsemblGeneIds (GRCh37): ENSG00000198369
OMIM: 609292, Gene2Phenotype
SPRED2 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Four individuals from three families reported with bi-allelic variants and a Noonan-like phenotype. One individual has HCM, and another asymmetrical interventricular septal hypertrophy.
Sources: Literature
Created: 13 Dec 2022, 4:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Noonan syndrome 14, MIM# 619745

Publications

Created: 13 Dec 2022, 4:23 a.m.

Panel version: 0.146

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Noonan syndrome 14, MIM# 619745
OMIM
609292
Clinvar variants
Variants in SPRED2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spred2 has been classified as Amber List (Moderate Evidence).

13 Dec 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spred2 has been classified as Amber List (Moderate Evidence).

13 Dec 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPRED2 was added gene: SPRED2 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRED2 were set to 34626534 Phenotypes for gene: SPRED2 were set to Noonan syndrome 14, MIM# 619745 Review for gene: SPRED2 was set to AMBER