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Severe microcephaly

Gene: ARPC4

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ARPC4 (actin related protein 2/3 complex subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000241553
EnsemblGeneIds (GRCh37): ENSG00000241553
OMIM: 604226, Gene2Phenotype
ARPC4 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

7 affected individuals from 6 families (gonadal mosaicism was confirmed in the mother of the 2 affected siblings) with a recurrent missense variant (NM_005718.4:c.472C>T; p.R158C). 6/7 affected individuals had microcephaly. The variant was associated with a decreased amount of F-actin in cells from two affected individuals.
Sources: Literature
Created: 4 Dec 2021, 2:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microcephaly; mild motor delays; significant speech impairment

Publications

  • DOI:https://doi.org/10.1016/j.xhgg.2021.100072

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Microcephaly
  • mild motor delays
  • significant speech impairment
OMIM
604226
Clinvar variants
Variants in ARPC4
Penetrance
None
Publications
  • DOI:https://doi.org/10.1016/j.xhgg.2021.100072
Panels with this gene

History Filter Activity

4 Dec 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ARPC4 was added gene: ARPC4 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARPC4 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100072 Phenotypes for gene: ARPC4 were set to Microcephaly; mild motor delays; significant speech impairment Review for gene: ARPC4 was set to GREEN