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Intellectual disability

Gene: TMLHE

Red List (low evidence)

TMLHE (trimethyllysine hydroxylase, epsilon)
EnsemblGeneIds (GRCh38): ENSG00000185973
EnsemblGeneIds (GRCh37): ENSG00000185973
OMIM: 300777, Gene2Phenotype
TMLHE is in 2 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Rated red: Although MIM:300872 includes ID presentation, TMLHE is a susceptibility factor. Listed as non-disease gene in PMID:19377476.
Created: 31 Oct 2017, 9:24 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
{Autism, susceptibility to, X-linked 6}, 300872 (includes Intellectual disability)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • {Autism, susceptibility to, X-linked 6}, 300872 (includes Intellectual disability)
OMIM
300777
Clinvar variants
Variants in TMLHE
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to TMLHE.

12 Mar 2018, Gel status: 1

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.

29 Nov 2017, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TMLHE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

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

Created

Ellen McDonagh (Genomics England Curator)

TMLHE was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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