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Intellectual disability syndromic and non-syndromic

Gene: ICE1

Amber List (moderate evidence)

ICE1 (interactor of little elongation complex ELL subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000164151
EnsemblGeneIds (GRCh37): ENSG00000164151
ICE1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported, no functional data; part of large consanguineous cohort, mixed phenotypes.
Sources: Literature
Created: 21 Jan 2020, 2:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability, cerebral atrophy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability, cerebral atrophy
Clinvar variants
Variants in ICE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ice1 has been classified as Amber List (Moderate Evidence).

21 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ice1 has been classified as Amber List (Moderate Evidence).

21 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ICE1 was added gene: ICE1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ICE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ICE1 were set to 31130284 Phenotypes for gene: ICE1 were set to Intellectual disability, cerebral atrophy Review for gene: ICE1 was set to AMBER