1. Panels
  2. Paediatric disorders - additional genes
  3. ISL1
STRs in panel
Prev Next
Regions in panel
Prev Next

Paediatric disorders - additional genes

Gene: ISL1

Amber List (moderate evidence)
ISL1 (ISL LIM homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000016082
EnsemblGeneIds (GRCh37): ENSG00000016082
OMIM: 600366, Gene2Phenotype
ISL1 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the association of monoallelic ISL1 variants with congenital heart disease. Hence, this gene should be promoted to green rating in the next GMS update.
Created: 15 Oct 2025, 3:23 p.m. | Last Modified: 15 Oct 2025, 3:23 p.m.
Panel Version: 7.12
Monoallelic variants in ISL1 have been associated with 'congenital heart disease' (MONDO:0005453) with a 'definitive' rating by the Congenital Heart Disease expert panel in ClinGen (https://search.clinicalgenome.org/CCID:008371)

There are at least five unrelated patients reported with CHD and with heterozygous ISL1 variants (including gene deletion, nonsense and promotor variants).

This gene has not yet been associated with relevant phenotypes in OMIM or Gene2Phenotype.
Sources: ClinGen
Created: 15 Oct 2025, 3:21 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital heart disease, MONDO:0005453

Publications

Created: 15 Oct 2025, 3:21 p.m.

Panel version: 7.11

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • congenital heart disease, MONDO:0005453
Tags
Q3_25_promote_green
OMIM
600366
Clinvar variants
Variants in ISL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Oct 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: isl1 has been classified as Amber List (Moderate Evidence).

15 Oct 2025, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: ISL1.

15 Oct 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ISL1 was added gene: ISL1 was added to Paediatric disorders - additional genes. Sources: ClinGen Mode of inheritance for gene: ISL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ISL1 were set to 25077177; 30390123; 31484864; 32820510; 34260301 Phenotypes for gene: ISL1 were set to congenital heart disease, MONDO:0005453 Review for gene: ISL1 was set to GREEN