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Fetal anomalies

Gene: PPP2R5C

Amber List (moderate evidence)

PPP2R5C (protein phosphatase 2 regulatory subunit B'gamma)
EnsemblGeneIds (GRCh38): ENSG00000078304
EnsemblGeneIds (GRCh37): ENSG00000078304
OMIM: 601645, Gene2Phenotype
PPP2R5C is in 4 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

x1 case only in the literature with relative macrocephaly noted at birth.

PMID: 25972378 - Loveday et al 2015 undertook trio exome sequencing in children with an overgrowth syndrome phenotype with unaffected parents. One individual with a de novo PPP2R5C c.468_470delAAC p.Thr157del variant identified. The proband had moderate ID, was born at 37 weeks gestation weighing 3100g (0.8SD) with a head circumference of 36cm (2.4SD).
Sources: Literature
Created: 28 Feb 2022, 9:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
macrocephaly; overgrowth

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • macrocephaly
  • overgrowth
OMIM
601645
Clinvar variants
Variants in PPP2R5C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).

1 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).

28 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: PPP2R5C was added gene: PPP2R5C was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2R5C were set to 25972378 Phenotypes for gene: PPP2R5C were set to macrocephaly; overgrowth Review for gene: PPP2R5C was set to AMBER