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  3. INTS8
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Polymicrogyria and Schizencephaly

Gene: INTS8

Red List (low evidence)
INTS8 (integrator complex subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000164941
EnsemblGeneIds (GRCh37): ENSG00000164941
OMIM: 611351, Gene2Phenotype
INTS8 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Three sibs with compound het variants in this gene, some functional evidence.
Created: 8 Feb 2020, 1:19 a.m. | Last Modified: 8 Feb 2020, 1:19 a.m.
Panel Version: 0.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572

Publications

Created: 8 Feb 2020, 1:19 a.m.
Last Modified: 8 Feb 2020, 1:19 a.m.
Panel version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572
OMIM
611351
Clinvar variants
Variants in INTS8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ints8 has been classified as Red List (Low Evidence).

8 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: INTS8 were changed from Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572 to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572

8 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: INTS8 were changed from to Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572

8 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: INTS8 were set to

8 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: INTS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

8 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ints8 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: INTS8 was added gene: INTS8 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: INTS8 was set to Unknown