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Intellectual disability

Gene: SIAH1

Amber List (moderate evidence)

SIAH1 (siah E3 ubiquitin protein ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000196470
EnsemblGeneIds (GRCh37): ENSG00000196470
OMIM: 602212, Gene2Phenotype
SIAH1 is in 2 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are sufficient unrelated cases (5) to promote this gene to Green at the next GMS panel update. Developmental delay, including cognitive impairment, was a key presenting feature of the disease phenotype. Inclusion on this panel would also cover the infantile hypotonia element as the ID panel is a component panel of the 'Hypotonic infant, R69' super panel.
Created: 5 Mar 2021, 11:06 a.m. | Last Modified: 5 Mar 2021, 11:06 a.m.
Panel Version: 3.977
- PMID: 32430360 (2021) - Five unrelated individuals with shared features of developmental delay, infantile hypotonia, dysmorphic features and laryngomalacia. All had speech delay and where cognitive assessment was age appropriate individuals exhibited learning difficulties. Trio WES revealed distinct de novo variants in SIAH1. In vitro assays demonstrated that SIAH1 mutants induce loss of Wnt stimulatory activity.
Sources: Literature
Created: 5 Mar 2021, 10:47 a.m.

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

Phenotypes
Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental delay
  • Infantile hypotonia
  • Dysmorphic features
  • Laryngomalacia
Tags
Q2_21_rating
OMIM
602212
Clinvar variants
Variants in SIAH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: siah1 has been classified as Amber List (Moderate Evidence).

5 Mar 2021, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: SIAH1 was added gene: SIAH1 was added to Intellectual disability. Sources: Literature Q2_21_rating tags were added to gene: SIAH1. Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIAH1 were set to 32430360 Phenotypes for gene: SIAH1 were set to Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia Review for gene: SIAH1 was set to GREEN