Aniridia

Gene: TRIM44

Red List (low evidence)

TRIM44 (tripartite motif containing 44)
EnsemblGeneIds (GRCh38): ENSG00000166326
EnsemblGeneIds (GRCh37): ENSG00000166326
OMIM: 612298, Gene2Phenotype
TRIM44 is in 2 panels

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Red List (low evidence)

Identified in one family (7 affected) Functional suggests that overexpression of TRIM44 inhibits the expression of PAX6
Created: 20 Mar 2019, 5:02 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Aniridia 3 617142

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • ?Aniridia 3, OMIM:617142
OMIM
612298
Clinvar variants
Variants in TRIM44
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TRIM44 were changed from ?Aniridia 3, 617142 to ?Aniridia 3, OMIM:617142

20 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TRIM44 were changed from ?Aniridia 3, 617142; ?Aniridia 3 617142 to ?Aniridia 3, 617142

20 Mar 2019, Gel status: 1

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to TRIM44. Added phenotypes ?Aniridia 3 617142 for gene: TRIM44

28 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on list classification

7 Jan 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: trim44 has been classified as Red List (Low Evidence).

7 Jan 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TRIM44 were changed from ?Aniridia 3 to ?Aniridia 3, 617142

3 Jan 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source Radboud University Medical Center, Nijmegen was added to TRIM44.

3 Jan 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: TRIM44 were set to

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TRIM44 was added gene: TRIM44 was added to Aniridia. Sources: Other Mode of inheritance for gene: TRIM44 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TRIM44 were set to ?Aniridia 3