Ocular coloboma

Gene: ACTG1

Green List (high evidence)

ACTG1 (actin gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000184009
EnsemblGeneIds (GRCh37): ENSG00000184009
OMIM: 102560, Gene2Phenotype
ACTG1 is in 9 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: On G2P and UKGTN
Created: 16 Nov 2016, 1:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Baraitser-Winter syndrome 2, 614583

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Baraitser-Winter syndrome 2, 614583
OMIM
102560
Clinvar variants
Variants in ACTG1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

ACTG1 was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Literature

16 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

ACTG1 was created by agardham