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Intellectual disability syndromic and non-syndromic

Gene: TECR

Red List (low evidence)

TECR (trans-2,3-enoyl-CoA reductase)
EnsemblGeneIds (GRCh38): ENSG00000099797
EnsemblGeneIds (GRCh37): ENSG00000099797
OMIM: 610057, Gene2Phenotype
TECR is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family: homozygous variant segregated in 5 affected siblings but not 8 unaffected ones.
Created: 1 Mar 2020, 12:16 a.m. | Last Modified: 1 Mar 2020, 12:16 a.m.
Panel Version: 0.2285

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive, MIM#614020

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal recessive, MIM#614020
OMIM
610057
Clinvar variants
Variants in TECR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Mar 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TECR were changed from to Mental retardation, autosomal recessive, MIM#614020

1 Mar 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TECR were set to

1 Mar 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

1 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TECR was added gene: TECR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TECR was set to Unknown