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  3. TRAPPC9
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Severe microcephaly

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

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
Created: 10 Mar 2022, 1:37 p.m.
Last Modified: 10 Mar 2022, 1:37 p.m.
Panel version: 2.292

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
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

Created: 4 Sep 2020, 2:49 a.m.

Panel version: 2.20

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
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: TRAPPC9.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to TRAPPC9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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