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Severe microcephaly

Gene: PPP1R35

Red List (low evidence)

PPP1R35 (protein phosphatase 1 regulatory subunit 35)
EnsemblGeneIds (GRCh38): ENSG00000160813
EnsemblGeneIds (GRCh37): ENSG00000160813
PPP1R35 is in 1 panel

1 review

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating this gene as Red, but with a watchlist tag, until more evidence is available.
Created: 25 Mar 2021, 3:23 p.m. | Last Modified: 25 Mar 2021, 3:23 p.m.
Panel Version: 2.104
Conference poster (Genomics of Rare Disease 2021) - 'Biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly' by Dawood et al, Baylor College of Medicine -

Proband from a Turkish consanguineous family with primary microcephaly (-4.3 SD at birth, -6.1 SD by 42 months) and GDD. Brain imaging showed thinning of corpus collosum, mild cerebellar volume loss, increased extra-axial CSF spaces, pachygyria, dysmorphic ventricular system and delayed myelination of the internal capsule. Exome sequencing revealed a biallelic frameshifting indel in the PPP1R35 gene (c.753_*3delGGAAGCGTAGACCinsCG; p.Trp251Cysfs*22), resulting in deletion of the canonical stop codon in the last exon. Sequencing of unaffected parents and 2 unaffected sibs confirmed segregation with the phenotype. Droplet digital PCR demonstrated expression of mutant mRNA, with comparable gene expression levels observed for mutant and wild-type alleles in fibroblasts.

Authors note a second Iranian consanguineous family in literature with two sibs with microcephaly and the same, p.Trp251Cysfs*22 variant - however, this paper could not be found in PubMed.
Sources: Other
Created: 25 Mar 2021, 3:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Primary microcephaly


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Other
  • Primary microcephaly
Clinvar variants
Variants in PPP1R35
Panels with this gene

History Filter Activity

25 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ppp1r35 has been classified as Red List (Low Evidence).

25 Mar 2021, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: PPP1R35 was added gene: PPP1R35 was added to Severe microcephaly. Sources: Other watchlist tags were added to gene: PPP1R35. Mode of inheritance for gene: PPP1R35 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPP1R35 were set to Primary microcephaly