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Microcephaly
Gene: TRAPPC9

TRAPPC9 (trafficking protein particle complex 9)
EnsemblGeneIds (GRCh38): ENSG00000167632
EnsemblGeneIds (GRCh37): ENSG00000167632
OMIM: 611966, Gene2Phenotype
TRAPPC9 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Note multiple intragenic CNVs reported for this gene.
Created: 15 Oct 2020, 5:41 a.m. | Last Modified: 15 Oct 2020, 5:41 a.m.

Panel Version: 0.488

Microcephaly is part of the phenotype.
Created: 17 Apr 2020, 8:27 a.m. | Last Modified: 17 Apr 2020, 8:27 a.m.

Panel Version: 0.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 13, MIM# 613192

Publications

Created: 17 Apr 2020, 8:27 a.m.
Last Modified: 17 Apr 2020, 8:27 a.m.
Panel version: 0.488

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Mental retardation, autosomal recessive 13, MIM# 613192

Tags

SV/CNV

OMIM

Clinvar variants

Variants in TRAPPC9

Penetrance

None

Publications

Panels with this gene

History Filter Activity

15 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Oct 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: TRAPPC9.

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trappc9 has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRAPPC9 were set to

17 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRAPPC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRAPPC9 was added gene: TRAPPC9 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRAPPC9 was set to Unknown