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Fetal anomalies

Gene: LINS1

Amber List (moderate evidence)
LINS1 (lines homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000140471
EnsemblGeneIds (GRCh37): ENSG00000140471
OMIM: 610350, Gene2Phenotype
LINS1 is in 3 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Natalie Chandler (North Thames GLH)

I don't know

Amber currently, green in ID & DDG2P panels. Amber in aus FA panel ?Microcephaly. PMID 39138116 - prenatal case increased NT, IUGR, Asymmetric cerebral ventricles 22 weeks gestation. 38563234 1 family 2 probands, pregnancies reported as normal. 34450347 2 sisters but in 40. Say pregnancies normal. PMID: 32499722 two siblings both pregnancies complicated by hypertension one 1.8kg 34 weeks and one 2.0kg term. flat nasal bridge, upturned nose, large ears, coarse facial features, long slender fingers, hallux valgus and dragging gait.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 27, MIM#614340

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for AUTOSOMAL RECESSIVE MENTAL RETARDATION
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
  • Intellectual developmental disorder, autosomal recessive 27, OMIM:614340
OMIM
610350
Clinvar variants
Variants in LINS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to LINS1. Added phenotypes Intellectual developmental disorder, autosomal recessive 27, OMIM:614340 for gene: LINS1 Publications for gene: LINS1 were updated from to 34450347; 32499722; 39138116; 32802957; 38563234; 28181389; 31922598

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: LINS1 was added gene: LINS1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LINS1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION