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| Severe microcephaly v2.102 | C7orf43 | Arina Puzriakova changed review comment from: Added new-gene-name tag, new approved HGNC gene symbol for C7orf43 is MAP11; to: Added new-gene-name tag, new approved HGNC gene symbol for C7orf43 is TRAPPC14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.59 | C7orf43 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.58 | C7orf43 | Arina Puzriakova Tag new-gene-name tag was added to gene: C7orf43. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.58 | C7orf43 | Arina Puzriakova commented on gene: C7orf43: Added new-gene-name tag, new approved HGNC gene symbol for C7orf43 is MAP11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.58 | C7orf43 | Arina Puzriakova Classified gene: C7orf43 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.58 | C7orf43 |
Arina Puzriakova Added comment: 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. |
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| Severe microcephaly v2.58 | C7orf43 | Arina Puzriakova Gene: c7orf43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.6 | C7orf43 |
Zornitza Stark 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 Added comment: Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model. HGNC approved name: MAP11. Sources: Literature |
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