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Intellectual disability

Gene: LINS1

Green List (high evidence)

LINS1 (lines homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000140471
EnsemblGeneIds (GRCh37): ENSG00000140471
OMIM: 610350, Gene2Phenotype
LINS1 is in 4 panels

4 reviews

Konstantinos Varvagiannis (Other)

Green List (high evidence)

Biallelic pathogenic variants in LINS1 (formerly LINS) cause Mental retardation, autosomal recessive 27 (MIM 614340).

The following reports on individuals with ID exist in Pubmed:
- PMID: 21937992 (Jamali et al. 2011) - 4 affected children from a consanguineous family, homozygous for a frameshift variant (NM_001040616.2:c.985_988delCATG or p.His329Terfs).
- PMID: 23773660 (Akawi et al. 2013) - 2 sibs born to consanguineous parents, homozygous for a splice site variant (NM_001040616.2:c.1219_1222+1delAAAGG).
- PMID: 28181389 (Sheth et al. 2017) - 2 sibs born to non-consanguineous parents homozygous for a missense variant (NM_001040616.2:c.937G>A or p.Glu313Lys).
- PMID: 30090841 (McMillan et al. 2018) - 1 boy with ID due to compound heterozygosity for 2 nonsense variants (c.1096G>T / p.Glu366* and c.1178T>G / p.Lys393* - presumably same ref. sequence).
Created: 5 Jan 2019, 12:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 27 (MIM 614340)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Caroline Wright (Sanger)

Green List (high evidence)

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Ellen McDonagh (Genomics England Curator)

HGNC-approved symbol is now LINS1.
Created: 7 Dec 2016, 5:40 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 23 Feb 2016, 12:12 p.m.

Lu Raymond (university of cambridge )

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
  • Mental retardation, autosomal recessive 27, 614340
OMIM
610350
Clinvar variants
Variants in LINS1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Feb 2019, Gel status: 4

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: LINS1 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; Mental retardation, autosomal recessive 27, 614340

15 Feb 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: LINS1 were set to

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to LINS1.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

7 Nov 2017, Gel status: 4

Changed Gene Name

Louise Daugherty (Genomics England Curator)

LINS was changed to LINS1

7 Nov 2017, Gel status: 4

Added New Source, Removed Tag

Louise Daugherty (Genomics England Curator)

Other was added to LINS. Panel: Intellectual disability new-gene-name was removed from LINS. Panel: Intellectual disability

9 Dec 2016, Gel status: 4

Changed Gene Name

Louise Daugherty (Genomics England Curator)

LINS1 was changed to LINS

23 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for LINS was changed to BIALLELIC, autosomal or pseudoautosomal

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LINS was added to Intellectual disabilitypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LINS was created by ellenmcdonagh