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  3. PPP2R5D
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Overgrowth

Gene: PPP2R5D

Green List (high evidence)
PPP2R5D (protein phosphatase 2 regulatory subunit B'delta)
EnsemblGeneIds (GRCh38): ENSG00000112640
EnsemblGeneIds (GRCh37): ENSG00000112640
OMIM: 601646, Gene2Phenotype
PPP2R5D is in 10 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Phenotype of macrocephaly is consistent, and would fit under the definition proposed of overgrowth (HT and/or OFC >2SD)
Created: 31 Aug 2021, 12:54 a.m. | Last Modified: 31 Aug 2021, 12:54 a.m.
Panel Version: 1.2
Created: 31 Aug 2021, 12:54 a.m.
Last Modified: 31 Aug 2021, 12:54 a.m.
Panel version: 1.2

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Macrocephaly rather than generalised overgrowth.
Created: 4 Jul 2020, 3:45 a.m. | Last Modified: 4 Jul 2020, 3:45 a.m.
Panel Version: 0.45

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 35, MIM# 616355

Publications

Created: 4 Jul 2020, 3:45 a.m.
Last Modified: 4 Jul 2020, 3:45 a.m.
Panel version: 0.45

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Houge-Janssens syndrome 1, MIM#616355
OMIM
601646
Clinvar variants
Variants in PPP2R5D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PPP2R5D were changed from Houge-Janssens syndrome 1, MIM#616355 to Houge-Janssens syndrome 1, MIM#616355

3 Oct 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35, MIM# 616355 to Houge-Janssens syndrome 1, MIM#616355

31 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: ppp2r5d has been classified as Green List (High Evidence).

4 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp2r5d has been classified as Red List (Low Evidence).

4 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PPP2R5D were changed from to Mental retardation, autosomal dominant 35, MIM# 616355

4 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPP2R5D were set to

4 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PPP2R5D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp2r5d has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPP2R5D was added gene: PPP2R5D was added to Overgrowth_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PPP2R5D was set to Unknown