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Fetal anomalies

Gene: TRIP12

Red List (low evidence)

TRIP12 (thyroid hormone receptor interactor 12)
EnsemblGeneIds (GRCh38): ENSG00000153827
EnsemblGeneIds (GRCh37): ENSG00000153827
OMIM: 604506, Gene2Phenotype
TRIP12 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Clinical presentation is typically post-natal.
Created: 23 Feb 2022, 5:42 a.m. | Last Modified: 23 Feb 2022, 5:42 a.m.
Panel Version: 0.4032

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 10 unrelated patients reported with ID with or without autism (PMIDs: 27848077, 28251352).
Created: 21 May 2020, 9:45 a.m. | Last Modified: 21 May 2020, 9:45 a.m.
Panel Version: 0.2641

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752
OMIM
604506
Clinvar variants
Variants in TRIP12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trip12 has been classified as Red List (Low Evidence).

23 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRIP12 were changed from TRIP12-related intellectual disability with/without autism spectrum disorder to Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752

23 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRIP12 were set to

23 Feb 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRIP12 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

23 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trip12 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRIP12 was added gene: TRIP12 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TRIP12 were set to TRIP12-related intellectual disability with/without autism spectrum disorder