Severe microcephaly
Gene: TRAPPC9The 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
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
Microcephaly is part of the phenotype.
Sources: Expert listCreated: 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
Tag Q2_21_rating was removed from gene: TRAPPC9.
Source Expert Review Green was added to TRAPPC9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: TRAPPC9 were set to 22549410; 20004765; 20004763; 30853973
Tag Q2_21_rating tag was added to gene: TRAPPC9.
Gene: trappc9 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TRAPPC9 were changed from Mental retardation, autosomal recessive 13, MIM# 613192 to Mental retardation, autosomal recessive 13, OMIM:613192
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