Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: CDH15

Red List (low evidence)

CDH15 (cadherin 15)
EnsemblGeneIds (GRCh38): ENSG00000129910
EnsemblGeneIds (GRCh37): ENSG00000129910
OMIM: 114019, Gene2Phenotype
CDH15 is in 2 panels

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified DISPUTED by ClinGen ID and Austim GCEP on 17/02/2021 - https://search.clinicalgenome.org/CCID:004393
Created: 13 May 2024, 1:47 a.m. | Last Modified: 13 May 2024, 1:47 a.m.
Panel Version: 0.5798

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual disability MONDO:0001071

Publications

  • https://search.clinicalgenome.org/CCID:004393

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Note no P/LP variants in ClinVar.
Created: 30 Sep 2021, 1:57 a.m. | Last Modified: 30 Sep 2021, 1:57 a.m.
Panel Version: 0.4154

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 19012874 - 4 unrelated patients with missense variants and mild-severe ID. Only two genes checked. All variants are common in gnomAD (>20 hets each) and classified as VUS or likely benign in ClinVar (paper is from 2008, pre-dates gnomAD). Functional studies were performed showing a LOF effect, where cell adhesion was reduced.
However NMD PTCs are present in gnomAD (many >=6 hets each)

PMID: 12052883 - null mouse model were viable, showed no gross developmental defects. In particular, the skeletal musculature appeared essentially normal. In the cerebellum of M-cadherin-lacking mutants, typical contactus adherens junctions were present and similar in size and numbers to the equivalent junctions in wild-type animals. However, the adhesion plaques in the cerebellum of these mutants appeared to contain elevated levels of N-cadherin compared to wild-type animals.

PMID: 28422132 - reviewed microdeletions spanning multiple genes including CDH15, suggests it may contribute to a more severe neurological phenotype, with particular regard to brain malformations.

PMID: 26506440 - speculates low penetrance for PTCs in this gene. Acknowledges variants in ExAC, describes them as benign
Created: 29 Sep 2021, 11:10 p.m. | Last Modified: 29 Sep 2021, 11:10 p.m.
Panel Version: 0.4150

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

Phenotypes
Mental retardation, autosomal dominant 3 MIM#612580

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal dominant 3 MIM#612580
Tags
disputed
OMIM
114019
Clinvar variants
Variants in CDH15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdh15 has been classified as Red List (Low Evidence).

30 Sep 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDH15 were changed from to Mental retardation, autosomal dominant 3 MIM#612580

30 Sep 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDH15 were set to

29 Sep 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CDH15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Sep 2021, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: CDH15.

29 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdh15 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDH15 was added gene: CDH15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDH15 was set to Unknown