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  2. Clefting disorders
  3. TRRAP
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Clefting disorders

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

13 unrelated individuals reported with a complex syndromic neurodevelopmental disorder. 5 had cleft lip/palate.
Sources: Expert Review
Created: 29 Jan 2021, 3:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay with or without dysmorphic facies and autism, MIM# 618454

Publications

Created: 29 Jan 2021, 3:05 a.m.

Panel version: 0.1

Details

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

History Filter Activity

29 Jan 2021, 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).

29 Jan 2021, 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).

29 Jan 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRRAP was added gene: TRRAP was added to Clefting_GEL. Sources: Expert Review Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRRAP were set to 30827496 Phenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism, MIM# 618454 Review for gene: TRRAP was set to GREEN