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Fetal anomalies

Gene: SEC24D

Amber List (moderate evidence)

SEC24D (SEC24 homolog D, COPII coat complex component)
EnsemblGeneIds (GRCh38): ENSG00000150961
EnsemblGeneIds (GRCh37): ENSG00000150961
OMIM: 607186, Gene2Phenotype
SEC24D is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for SYNDROMIC OSTEOGENESIS IMPERFECTA
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • SYNDROMIC OSTEOGENESIS IMPERFECTA
OMIM
607186
Clinvar variants
Variants in SEC24D
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: SEC24D was added gene: SEC24D was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SEC24D were set to SYNDROMIC OSTEOGENESIS IMPERFECTA