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Intellectual disability

Gene: MYT1L

Green List (high evidence)

MYT1L (myelin transcription factor 1 like)
EnsemblGeneIds (GRCh38): ENSG00000186487
EnsemblGeneIds (GRCh37): ENSG00000186487
OMIM: 613084, Gene2Phenotype
MYT1L is in 6 panels

5 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Promoted gene status from Red to Green due to expert review (currently used in clinical diagnostics) and evidence in three unrelated individuals for intellectual disability.
Created: 19 Feb 2018, 11:22 a.m.
Comment on phenotypes: Expanded phenotype due to OMIM update, recent publications and suggestion from expert reviewer
Created: 19 Feb 2018, 11:10 a.m.
Comment on publications: Added recent publications to support the ID phenotype and from publication suggested by expert reviewer
Created: 19 Feb 2018, 11:03 a.m.

alisdair mcneill (Sheffield childrens hospital)

Green List (high evidence)

this is also a reported gene for DDD
Created: 5 Feb 2018, 3:11 p.m.

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

Phenotypes
intellectual disability; obesity

Publications

  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5597252/

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

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
INTELLECTUAL DISABILITY

Publications

  • 0

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 7:45 p.m.

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

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Mental retardation, autosomal dominant 39, 616521
  • MRD39
  • Intellectual disability
  • obesity
OMIM
613084
Clinvar variants
Variants in MYT1L
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to MYT1L.

12 Mar 2018, Gel status: 3

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.

19 Feb 2018, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Feb 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MYT1L were set to 23033978; 25529582; 28859103; 29293472; 28470180; 25232846; 26240977

19 Feb 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MYT1L were set to 23033978; 25529582; 28859103; 29293472; 28470180; 25232846

19 Feb 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MYT1L were set to Mental retardation, autosomal dominant 39, 616521; MRD39; Intellectual disability; obesity

19 Feb 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MYT1L were set to 23033978; 25529582; 28859103; 29293472; 28470180

19 Feb 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MYT1L were set to 23033978; 25529582; 28859103

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)

MYT1L was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MYT1L was created by ellenmcdonagh