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Cataracts

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

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

I don't know

Zebrafish model - Lang et al (2006) Nature Genet 38:1198-1203.
Created: 25 May 2016, 8:11 a.m.

Phenotypes
Cranio-lenticulo-sutural dysplasia

Publications

  • Boyadjiev et al (2006) Nature Genet. 38: 1192-1197
  • Boyadjiev et al (2011) Clin. Genet. 80: 169-176.

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Not enough evidence at this time to make this gene red, as the second case did not find a second SEC23A variant (the unaffacted father also had the missense M702V mutation found in the proband) and indicated that a digenic mechanism may be involved.
Created: 6 Jun 2016, 8:14 a.m.
Is on the Manchester congenital cataracts gene panel. It is a possible DD gene for Craniolenticulosutural dysplasia (includes punctate cataract and sutural cataract phenotypes). Digenic inheritance may be involved...a second mutation was not found in a male boy who inherited a missense mutation from his unaffected father (PMID: 21039434). Members of a Saudi Arabian family were homozygous for a missense mutation in this gene (PMID: 16980979). Does not seem to be enough evidence at this time).
Created: 31 May 2016, 11:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Craniolenticulosutural dysplasia
  • Cranio-lenticulo-sutural dysplasia
OMIM
610511
Clinvar variants
Variants in SEC23A
Penetrance
Complete
Publications
  • PMID: 21039434
  • 16980979
  • Boyadjiev et al (2006) Nature Genet. 38: 1192-1197
  • Boyadjiev et al (2011) Clin. Genet. 80: 169-176.
Panels with this gene

History Filter Activity

6 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SEC23A was changed to BIALLELIC, autosomal or pseudoautosomal

6 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Jun 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SEC23A were set to Craniolenticulosutural dysplasia; Cranio-lenticulo-sutural dysplasia

3 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SEC23A were set to PMID: 21039434; 16980979; Boyadjiev et al (2006) Nature Genet. 38: 1192-1197; Boyadjiev et al (2011) Clin. Genet. 80: 169-176.

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SEC23A was added to Cataractspanel. Sources: UKGTN