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  3. INSL3
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Differences of Sex Development

Gene: INSL3

Amber List (moderate evidence)
INSL3 (insulin like 3)
EnsemblGeneIds (GRCh38): ENSG00000248099
EnsemblGeneIds (GRCh37): ENSG00000248099
OMIM: 146738, Gene2Phenotype
INSL3 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Note some of the reported variants have relatively high population frequencies in gnomad, unclear if this is monogenic.
Created: 18 Jul 2020, 8:12 a.m. | Last Modified: 18 Jul 2020, 8:12 a.m.
Panel Version: 0.146

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cryptorchidism, MIM# 219050

Publications

Created: 18 Jul 2020, 8:12 a.m.
Last Modified: 18 Jul 2020, 8:12 a.m.
Panel version: 0.146

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Cryptorchidism, MIM# 219050
OMIM
146738
Clinvar variants
Variants in INSL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: insl3 has been classified as Amber List (Moderate Evidence).

18 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: INSL3 were changed from to Cryptorchidism, MIM# 219050

18 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: INSL3 were set to

18 Jul 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: INSL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

18 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: insl3 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: INSL3 was added gene: INSL3 was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: INSL3 was set to Unknown