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DDG2P

Gene: SEC23A

Red List (low evidence)

SEC23A (Sec23 homolog A, coat complex II component)
EnsemblGeneIds (GRCh38): ENSG00000100934
EnsemblGeneIds (GRCh37): ENSG00000100934
OMIM: 610511, Gene2Phenotype
SEC23A is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • CRANIOLENTICULOSUTURAL DYSPLASIA 607812
OMIM
610511
Clinvar variants
Variants in SEC23A
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: SEC23A was added gene: SEC23A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC23A were set to 16980979 Phenotypes for gene: SEC23A were set to CRANIOLENTICULOSUTURAL DYSPLASIA 607812 Mode of pathogenicity for gene: SEC23A was set to Other - please provide details in the comments