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Clefting disorders
Gene: INTS1

INTS1 (integrator complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000164880
EnsemblGeneIds (GRCh37): ENSG00000164880
OMIM: 611345, Gene2Phenotype
INTS1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

At least 6 families reported, including at least 3 sib pairs. Cleft lip/palate is not a consistent/common feature in those reported to date.
Created: 17 Feb 2020, 2:24 a.m. | Last Modified: 17 Feb 2020, 2:24 a.m.

Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571

Publications

Created: 17 Feb 2020, 2:24 a.m.
Last Modified: 17 Feb 2020, 2:24 a.m.
Panel version: Imported from Clefts panel version 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list
Victorian Clinical Genetics Services

Phenotypes

Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571
Cleft palate

OMIM

Clinvar variants

Variants in INTS1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

7 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ints1 has been classified as Red List (Low Evidence).

7 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ints1 has been classified as Red List (Low Evidence).

7 Feb 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: INTS1 were changed from Cleft palate to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571; Cleft palate

7 Feb 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: INTS1 were set to

7 Feb 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: INTS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

16 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: INTS1 was added gene: INTS1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red Mode of inheritance for gene: INTS1 was set to Unknown Phenotypes for gene: INTS1 were set to Cleft palate