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Intellectual disability syndromic and non-syndromic

Gene: TRRAP

Green List (high evidence)

TRRAP (transformation/transcription domain associated protein)
EnsemblGeneIds (GRCh38): ENSG00000196367
EnsemblGeneIds (GRCh37): ENSG00000196367
OMIM: 603015, Gene2Phenotype
TRRAP is in 7 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

31 unrelated patients with global developmental delay and variably impaired intellectual development associated with de novo heterozygous mutations of TRRAP.
Created: 5 Dec 2019, 11:56 a.m. | Last Modified: 5 Dec 2019, 11:56 a.m.
Panel Version: 0.526
Sources: Expert list
Created: 5 Dec 2019, 11:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay with or without dysmorphic facies and autism; OMIM #618454

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Developmental delay with or without dysmorphic facies and autism
  • OMIM #618454
OMIM
603015
Clinvar variants
Variants in TRRAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trrap has been classified as Green List (High Evidence).

5 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: trrap has been classified as Green List (High Evidence).

5 Dec 2019, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: TRRAP was added gene: TRRAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRRAP were set to PubMed: 30827496 Phenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism; OMIM #618454 Review for gene: TRRAP was set to GREEN