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Cerebral vascular malformations

Gene: PDCD10

Green List (high evidence)
PDCD10 (programmed cell death 10)
EnsemblGeneIds (GRCh38): ENSG00000114209
EnsemblGeneIds (GRCh37): ENSG00000114209
OMIM: 609118, Gene2Phenotype
PDCD10 is in 4 panels

4 reviews

Alexandra Njegic (Leeds Teaching Hospital Trust)

Green List (high evidence)

LOF variants in PDCD10 do cause Cerebral cavernous malformations-3 (OMIM# 603285); pop-up needs removing.

G2P has LOF definitive and 'absent gene product' https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00406; citing PMID: 15543491, variants described in this paper - 3/6 nonsense mutations, and 2/6 caused aberrant splicing of exon 9 and 1/6 led to an aberrant splicing of exon 5, without frameshift.

PMID: 31114296 reports single base deletion and predicted early protein termination in 1 patient with Cerebral cavernous malformations-3.

PMID: 39173099 reports a case with a nonsense variant and Cerebral cavernous malformations-3.
Created: 5 Aug 2026, 9:05 a.m. | Last Modified: 5 Aug 2026, 9:05 a.m.
Panel Version: 5.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cerebral cavernous malformations-3

Publications

Mode of pathogenicity
Other

Created: 5 Aug 2026, 9:05 a.m.
Last Modified: 5 Aug 2026, 9:05 a.m.
Panel version: 5.2

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Cerebral cavernous malformations 3, 603285;Cerebral Cavernous Malformation;Cerebral cavernous malformations 3;Cerebral Cavernous Malformations;Familial Cerebral Cavernous Malformation
Created: 25 Mar 2021, 2:07 p.m. | Last Modified: 25 Mar 2021, 2:07 p.m.
Panel Version: 2.16
Created: 25 Mar 2021, 2:07 p.m.
Last Modified: 25 Mar 2021, 2:07 p.m.
Panel version: 2.16

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green rating
Created: 29 Nov 2019, 6:58 p.m. | Last Modified: 29 Nov 2019, 6:58 p.m.
Panel Version: 1.67
Created: 29 Nov 2019, 6:58 p.m.
Last Modified: 29 Nov 2019, 6:58 p.m.
Panel version: 1.67

Alice Gardham (Genomics England)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral cavernous malformations 3 603285

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 12 Dec 2016, 9:48 a.m.

Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebral cavernous malformations 3, OMIM:603285
OMIM
609118
Clinvar variants
Variants in PDCD10
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

25 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PDCD10 were changed from Cerebral cavernous malformations 3, 603285; Cerebral Cavernous Malformation; Cerebral cavernous malformations 3; Cerebral Cavernous Malformations; Familial Cerebral Cavernous Malformation to Cerebral cavernous malformations 3, OMIM:603285

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to PDCD10.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PDCD10.

13 Sep 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PDCD10 were set to 20301470, 15543491

19 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PDCD10 were set to 20301470, 15543491

19 Dec 2016, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for PDCD10 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

9 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PDCD10 was added to Cerebrovascular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

9 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PDCD10 was added to Cerebrovascular disorderspanel. Source: UKGTN

9 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

PDCD10 was added to Cerebrovascular disorderspanel. Source: Emory Genetics Laboratory Model of inheritance for gene PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PDCD10 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PDCD10 was created by ellenmcdonagh