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  2. Monogenic short stature
  3. INTS8
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Monogenic short stature

Gene: INTS8

Red List (low evidence)
INTS8 (integrator complex subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000164941
EnsemblGeneIds (GRCh37): ENSG00000164941
OMIM: 611351, Gene2Phenotype
INTS8 is in 3 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

PMID: 28542170 describes one Dutch family with 3 affected children. All 3 children are compound heterozygous for variants in INTS8 and all three have growth retardation.
Sources: Literature
Created: 11 Dec 2020, 3:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572

Publications

Created: 11 Dec 2020, 3:20 p.m.

Copied from panel: Growth failure in early childhood v3.79

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572
OMIM
611351
Clinvar variants
Variants in INTS8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: INTS8 was added gene: INTS8 was added to Monogenic short stature. Sources: Literature Mode of inheritance for gene: INTS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS8 were set to 28542170 Phenotypes for gene: INTS8 were set to ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572