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Autism

Gene: TMLHE

Red List (low evidence)
TMLHE (trimethyllysine hydroxylase, epsilon)
EnsemblGeneIds (GRCh38): ENSG00000185973
EnsemblGeneIds (GRCh37): ENSG00000185973
OMIM: 300777, Gene2Phenotype
TMLHE is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: ClinGen Disputed gene-disease association Classification - 03/02/2021 by ID & Autism GCEP: https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a780ea6-ad4e-417a-a596-27188e327aad-2021-03-02T050000.000Z?page=1&size=25&search=
Created: 19 Feb 2024, 6:31 a.m. | Last Modified: 19 Feb 2024, 6:31 a.m.
Panel Version: 0.196
Created: 19 Feb 2024, 6:31 a.m.
Last Modified: 19 Feb 2024, 6:31 a.m.
Panel version: 0.196

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 1 Mar 2020, 5:21 a.m.

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

Phenotypes
{Autism, susceptibility to, X-linked 6}, MIM#300872

Publications

Created: 1 Mar 2020, 5:21 a.m.

Panel version: 0.70

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • {Autism, susceptibility to, X-linked 6}, MIM#300872
OMIM
300777
Clinvar variants
Variants in TMLHE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Feb 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tmlhe has been classified as Red List (Low Evidence).

1 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmlhe has been classified as Green List (High Evidence).

1 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMLHE was added gene: TMLHE was added to Autism. Sources: Expert list Mode of inheritance for gene: TMLHE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TMLHE were set to 21865298 Phenotypes for gene: TMLHE were set to {Autism, susceptibility to, X-linked 6}, MIM#300872 Review for gene: TMLHE was set to GREEN