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Fetal anomalies

Gene: INTS1

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Green in 4 panels including severe paediatric disorders, growth failure and cataracts. PMID:28542170 - 3 patients all with severe ID short stature (no info on onset of growth issues). Additional features included cataracts, frontal bossing, hypertelorism, dolichocephaly, pectus abnormalities, and irregularly implanted and overlapping toes. Only 1 patient had renal dysplasia and the other 2 had congenital heart defects. PMID:30622326 - 5 additional patients. Similar phenotype cataracts onset 1-3 yrs more variable ocular findings included myopia, microphthalmia, microcornea, and coloboma. Common dysmorphic features included frontal bossing, small palpebral fissures, widely spaced eyes, full cheeks, broad nasal bridge with a broad nasal tip, low-set and simple ears, downturned corners of the mouth, and small chin. Brain imaging was mostly normal, although some patients showed nonspecific abnormalities affecting the hippocampus, corpus callosum, and cerebellum. PMID:31428919 - 2 siblings noted to have normal pregnancies except reduced fetal movements. Bith had ID, short stature and cataracts. Dysmorphic features were somewhat variable, but included uneven teeth, hypertelorism, abnormal palmar creases, and pectus deformities. The boy had cryptorchidism and the girl had abnormal genitalia. Brain imaging was normal. Green
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857
OMIM
611345
Clinvar variants
Variants in INTS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: INTS1. Tag Q3_24_NHS_review was removed from gene: INTS1.

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to INTS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2024, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: INTS1. Tag Q3_24_NHS_review tag was added to gene: INTS1.

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: INTS1 was added gene: INTS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS1 were set to 28542170; 31428919; 30622326 Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857