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  3. MYT1
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Fetal anomalies

Gene: MYT1

Green List (high evidence)
MYT1 (myelin transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000196132
EnsemblGeneIds (GRCh37): ENSG00000196132
OMIM: 600379, Gene2Phenotype
MYT1 is in 4 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Reported in patients with OAV spectrum / hemifacial microsomia
Created: 25 Feb 2022, 4:09 a.m. | Last Modified: 25 Feb 2022, 4:09 a.m.
Panel Version: 0.4229

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 25 Feb 2022, 4:09 a.m.
Last Modified: 25 Feb 2022, 4:09 a.m.
Panel version: 0.4229

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Missense variant reported de novo in a patient with mild ID reported in a cohort study, Patient also had a COL9A2 variant and skeletal features. Authors referred to it as an extended phenotype and dual diagnosis.
Sources: Literature
Created: 5 Jul 2021, 5:42 a.m. | Last Modified: 5 Jul 2021, 5:45 a.m.
Panel Version: 0.3921

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

Phenotypes
Intellectual disability

Publications

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

Created: 5 Jul 2021, 5:42 a.m.
Last Modified: 5 Jul 2021, 5:45 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3921

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hemifacial microsomia, MONDO:0015398
OMIM
600379
Clinvar variants
Variants in MYT1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

25 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: myt1 has been classified as Green List (High Evidence).

25 Feb 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: MYT1 were changed from Oculo-auriculo-vertebral spectrum (OAVS); OAVS/Goldenhar syndrome to Hemifacial microsomia, MONDO:0015398

25 Feb 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: MYT1 were set to 28612832; 27358179

25 Feb 2022, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

Mode of inheritance for gene: MYT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYT1 was added gene: MYT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: MYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYT1 were set to 28612832; 27358179 Phenotypes for gene: MYT1 were set to Oculo-auriculo-vertebral spectrum (OAVS); OAVS/Goldenhar syndrome Mode of pathogenicity for gene: MYT1 was set to Other