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  2. Macrocephaly_Megalencephaly
  3. PPP2R5C
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Macrocephaly_Megalencephaly

Gene: PPP2R5C

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

- ClinVar: two de novo missense variants (p.E177K and p.H188R), one has been reported for intellectual disability

- PMID 25972378: inframe del (T157del) found in a de novo individual with ID, facial asymmetry, conductive HL, overgrowth

- VCGS proband: additional de novo missense variant (p.K299E) found in one individual with syndromic intellectual disability
Created: 17 Sep 2022, 2:19 a.m. | Last Modified: 17 Sep 2022, 2:19 a.m.
Panel Version: 0.116

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092)

Publications

Created: 17 Sep 2022, 2:19 a.m.
Last Modified: 17 Sep 2022, 2:19 a.m.
Panel version: 0.116

Sue White (Victorian Clinical Genetics Services)

I don't know

Emerging unpublished evidence of monoallelic missense variants causing intellectual disability and macrocephaly
Sources: Research
Created: 30 Apr 2021, 3:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
macrocephaly; intellectual disability

Created: 30 Apr 2021, 3:06 a.m.

Panel version: 0.70

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Research
Phenotypes
  • Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092)
  • macrocephaly
  • intellectual disability
OMIM
601645
Clinvar variants
Variants in PPP2R5C
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Sep 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PPP2R5C were changed from macrocephaly; intellectual disability to Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability

17 Sep 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPP2R5C were set to

17 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp2r5c has been classified as Green List (High Evidence).

30 Apr 2021, 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).

30 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

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

30 Apr 2021, Gel status: 1

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

Sue White (Victorian Clinical Genetics Services)

gene: PPP2R5C was added gene: PPP2R5C was added to Macrocephaly_Megalencephaly. Sources: Research Mode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PPP2R5C were set to macrocephaly; intellectual disability Penetrance for gene: PPP2R5C were set to Complete Review for gene: PPP2R5C was set to AMBER