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  3. TRAPPC9
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Clefting

Gene: TRAPPC9

Green List (high evidence)
TRAPPC9 (trafficking protein particle complex 9)
EnsemblGeneIds (GRCh38): ENSG00000167632
EnsemblGeneIds (GRCh37): ENSG00000167632
OMIM: 611966, Gene2Phenotype
TRAPPC9 is in 5 panels

1 review

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Five pedigrees reported to date. Cleft lip described in one patient (20004764)
Created: 31 May 2017, 11:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Publications

Created: 31 May 2017, 11:25 a.m.

Panel version: 0.287

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal recessive 13, OMIM:613192
OMIM
611966
Clinvar variants
Variants in TRAPPC9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 May 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TRAPPC9 were set to 20004764

14 May 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TRAPPC9 were changed from MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13 to Mental retardation, autosomal recessive 13, OMIM:613192

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TRAPPC9 was created by ellenmcdonagh

31 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TRAPPC9 was added to Cleftingpanel. Sources: Expert Review Green