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Intellectual disability

Gene: CHL1

Amber List (moderate evidence)

CHL1 (cell adhesion molecule L1 like)
EnsemblGeneIds (GRCh38): ENSG00000134121
EnsemblGeneIds (GRCh37): ENSG00000134121
OMIM: 607416, Gene2Phenotype
CHL1 is in 1 panel

3 reviews

Sarah Leigh (Genomics England Curator)

I don't know

Not associated with phenotype in OMIM or G2P. Four cases of learning difficulty, with or without cognitive impairment have been reported with 3p26.3 deletions (reviewed in PMID 25451713). Further evidence needed to prove that CHL1 is responsible for this phenotype
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Red
Phenotypes
  • verbal function and developmental delay
Tags
cnv
OMIM
607416
Clinvar variants
Variants in CHL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

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.

5 Jan 2018, Gel status: 2

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to CHL1. Panel: Intellectual disability Publications for gene CHL1 was set to ['24896178', ' 26350204', ' 27708271', ' 27933663', ' 25451713 ']

11 Dec 2017, Gel status: 1

Added New Source, Set mode of inheritance, Added Tag

Sarah Leigh (Genomics England Curator)

Literature was added to CHL1. Panel: Intellectual disability Model of inheritance for gene CHL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown cnv was added to CHL1. Panel: Intellectual disability

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

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)

CHL1 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CHL1 was created by ellenmcdonagh