Cerebral vascular malformations

Gene: SETD5

Amber List (moderate evidence)

SETD5 (SET domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000168137
EnsemblGeneIds (GRCh37): ENSG00000168137
OMIM: 615743, Gene2Phenotype
SETD5 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with Mental retardation, autosomal dominant 23 OMIM:615761 in OMIM and as confirmed Gen2Phen gene. At least one de novo variant has been reported a case of Moyamoya disease MONDO:0016820, who also had features of OMIM:615761, two further variants were found, but it was not possible to report their inheritance (PMID 31474762). Eight de novo SETD5 variants have been reported in Mental retardation, autosomal dominant 23 OMIM:615761 (PMIDs 24680889, 23020937, 25138099). However, none of these reported detailed neurological examinations that could have diagnosed Moyamoya disease.
Created: 28 Apr 2021, 4:45 p.m. | Last Modified: 29 Jun 2021, 10:52 a.m.
Panel Version: 2.52

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single family reported with de novo SETD5 frameshift in a child with ID and Moya Moya. 2 other families with novel missense and concordant phenotypes but no parental segregation performed.
Sources: Literature
Created: 9 Dec 2020, 7:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Moya Moya; Mental retardation, autosomal dominant 23, MIM# 615761

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Moyamoya disease MONDO:0016820
  • Mental retardation, autosomal dominant 23 OMIM:615761
  • intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0014336
Tags
watchlist Q2_21_expert_review
OMIM
615743
Clinvar variants
Variants in SETD5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jun 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SETD5 were set to 31474762

29 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: setd5 has been classified as Amber List (Moderate Evidence).

29 Jun 2021, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: SETD5.

29 Jun 2021, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: SETD5.

28 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: setd5 has been classified as Red List (Low Evidence).

28 Apr 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SETD5 were changed from MoyaMoya; Mental retardation, autosomal dominant 23 OMIM:615761; intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0014336 to Moyamoya disease MONDO:0016820; Mental retardation, autosomal dominant 23 OMIM:615761; intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0014336

28 Apr 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SETD5 were changed from Moya Moya; Mental retardation, autosomal dominant 23, MIM# 615761 to MoyaMoya; Mental retardation, autosomal dominant 23 OMIM:615761; intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0014336

9 Dec 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SETD5 was added gene: SETD5 was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETD5 were set to 31474762 Phenotypes for gene: SETD5 were set to Moya Moya; Mental retardation, autosomal dominant 23, MIM# 615761 Review for gene: SETD5 was set to RED