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Severe microcephaly

Gene: TRAPPC9

Amber List (moderate evidence)

TRAPPC9 (trafficking protein particle complex 9)
EnsemblGeneIds (GRCh38): ENSG00000167632
EnsemblGeneIds (GRCh37): ENSG00000167632
OMIM: 611966, Gene2Phenotype
TRAPPC9 is in 8 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - at least 32 affected individuals from 9 families have been reported worldwide. Variable degrees of microcephaly are reported in almost all subjects and there are enough unrelated cases with sufficiently severe microcephaly to include as diagnostic-grade on this panel.
Created: 14 May 2021, 10:27 a.m. | Last Modified: 14 May 2021, 10:27 a.m.
Panel Version: 2.154

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Microcephaly is part of the phenotype.
Sources: Expert list
Created: 4 Sep 2020, 2:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 13, MIM# 613192

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mental retardation, autosomal recessive 13, OMIM:613192
Tags
Q2_21_rating
OMIM
611966
Clinvar variants
Variants in TRAPPC9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 May 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TRAPPC9 were set to 22549410; 20004765; 20004763; 30853973

14 May 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: TRAPPC9.

14 May 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: trappc9 has been classified as Amber List (Moderate Evidence).

14 May 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TRAPPC9 were changed from Mental retardation, autosomal recessive 13, MIM# 613192 to Mental retardation, autosomal recessive 13, OMIM:613192

4 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TRAPPC9 was added gene: TRAPPC9 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC9 were set to 22549410; 20004765; 20004763; 30853973 Phenotypes for gene: TRAPPC9 were set to Mental retardation, autosomal recessive 13, MIM# 613192 Review for gene: TRAPPC9 was set to GREEN gene: TRAPPC9 was marked as current diagnostic