Genes in panel
STRs in panel
Prev Next

Severe microcephaly

Gene: TRAPPC9

No list

TRAPPC9 (trafficking protein particle complex 9)
EnsemblGeneIds (GRCh38): ENSG00000167632
EnsemblGeneIds (GRCh37): ENSG00000167632
OMIM: 611966, Gene2Phenotype
TRAPPC9 is in 7 panels

1 review

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
Phenotypes
  • Mental retardation, autosomal recessive 13, MIM# 613192
OMIM
611966
Clinvar variants
Variants in TRAPPC9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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