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Severe microcephaly

Gene: C7orf43

Amber List (moderate evidence)

C7orf43 (chromosome 7 open reading frame 43)
EnsemblGeneIds (GRCh38): ENSG00000146826
EnsemblGeneIds (GRCh37): ENSG00000146826
C7orf43 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for C7orf43 is MAP11
Created: 5 Jan 2021, 10:34 a.m. | Last Modified: 5 Jan 2021, 10:34 a.m.
Panel Version: 2.58
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

Zornitza Stark (Australian Genomics)

I don't know

Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model. HGNC approved name: MAP11.
Sources: Literature
Created: 1 May 2020, 10:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 25, primary, autosomal recessive, MIM# 618351

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Microcephaly 25, primary, autosomal recessive, OMIM:618351
  • Microcephaly 25, primary, autosomal recessive, MONDO:0032694
Tags
new-gene-name
Clinvar variants
Variants in C7orf43
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

5 Jan 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: C7orf43.

5 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: c7orf43 has been classified as Amber List (Moderate Evidence).

1 May 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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