Severe microcephaly
Gene: C7orf43Added new-gene-name tag, new approved HGNC gene symbol for C7orf43 is TRAPPC14Created: 5 Jan 2021, 10:34 a.m. | Last Modified: 26 Feb 2021, 10 a.m.
Panel Version: 2.102
Comment on list classification: New gene added by Zornitza Stark. Associated with relevant phenotype in OMIM (MIM# 618351) but not yet in Gene2Phenotype.
Three individuals from one family with severe ID and primary microcephaly of relevant severity (-5 SD to -6 SD). Zebrafish model recapitulates human microcephaly phenotype.
Rating Amber as additional cases required prior to inclusion on a diagnostic panel.Created: 5 Jan 2021, 10:33 a.m. | Last Modified: 5 Jan 2021, 10:33 a.m.
Panel Version: 2.58
Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model. HGNC approved name: MAP11.
Sources: LiteratureCreated: 1 May 2020, 10:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 25, primary, autosomal recessive, MIM# 618351
Publications
Phenotypes for gene: C7orf43 were changed from Microcephaly 25, primary, autosomal recessive, MIM# 618351 to Microcephaly 25, primary, autosomal recessive, OMIM:618351; Microcephaly 25, primary, autosomal recessive, MONDO:0032694
Tag new-gene-name tag was added to gene: C7orf43.
Gene: c7orf43 has been classified as Amber List (Moderate Evidence).
gene: C7orf43 was added gene: C7orf43 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C7orf43 were set to 30715179 Phenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM# 618351 Review for gene: C7orf43 was set to AMBER