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Intellectual disability syndromic and non-syndromic

Gene: TRHR

Red List (low evidence)

TRHR (thyrotropin releasing hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000174417
EnsemblGeneIds (GRCh37): ENSG00000174417
OMIM: 188545, Gene2Phenotype
TRHR is in 5 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

No ID gene in this condition.
Created: 5 Dec 2019, 12:02 p.m. | Last Modified: 5 Dec 2019, 12:02 p.m.
Panel Version: 0.530

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypothyroidism, congenital, nongoitrous, 7; OMIM #618573

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 7
  • OMIM #618573
OMIM
188545
Clinvar variants
Variants in TRHR
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

5 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from TRHR. Source Expert list was added to TRHR. Mode of inheritance for gene TRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRHR were changed from to Hypothyroidism, congenital, nongoitrous, 7; OMIM #618573

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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