1. Panels
  2. Structural eye disease
  3. TBX22
Genes in panel
Prev Next
STRs in panel
Prev Next

Structural eye disease

Gene: TBX22

Red List (low evidence)
TBX22 (T-box 22)
EnsemblGeneIds (GRCh38): ENSG00000122145
EnsemblGeneIds (GRCh37): ENSG00000122145
OMIM: 300307, Gene2Phenotype
TBX22 is in 6 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

Pauws one family with coloboma with intronic variant
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
?Abruzzo-Erickson syndrome; 302905

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Pauws one family with coloboma with intronic variant
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
?Abruzzo-Erickson syndrome; 302905

Publications

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
Phenotypes
  • ?Abruzzo-Erickson syndrome, 302905
OMIM
300307
Clinvar variants
Variants in TBX22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TBX22 was added gene: TBX22 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TBX22 were set to 22784330 Phenotypes for gene: TBX22 were set to ?Abruzzo-Erickson syndrome, 302905