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Prepair 1000+

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 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Insufficient evidence for gene-disease association to merit inclusion in a screening panel.
Created: 22 Jun 2022, 3 a.m. | Last Modified: 22 Jun 2022, 3 a.m.
Panel Version: 0.25

Crystle Lee (Victorian Clinical Genetics Services)

Amber in Mendeliome. Insufficient evidence for inclusion.

There is only one family reported with convincing evidence for gene-disease association, and we have downgraded this gene on other panels.
Created: 8 Jun 2022, 12:48 a.m. | Last Modified: 8 Jun 2022, 12:48 a.m.
Panel Version: 0.0

Phenotypes
Craniolenticulosutural dysplasia (MIM# 607812)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Craniolenticulosutural dysplasia (MIM# 607812)
OMIM
610511
Clinvar variants
Variants in SEC23A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jun 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sec23a has been classified as Red List (Low Evidence).

22 Jun 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SEC23A were changed from Craniolenticulosutural dysplasia, 607812 (3) to Craniolenticulosutural dysplasia (MIM# 607812)

22 Jun 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SEC23A were set to

22 Jun 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sec23a has been classified as Red List (Low Evidence).

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SEC23A was added gene: SEC23A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, 607812 (3)