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Macrocephaly_Megalencephaly

Gene: TET3

Amber List (moderate evidence)
TET3 (tet methylcytosine dioxygenase 3)
EnsemblGeneIds (GRCh38): ENSG00000187605
EnsemblGeneIds (GRCh37): ENSG00000187605
OMIM: 613555, Gene2Phenotype
TET3 is in 4 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 31928709 - 11 cases in 8 families.
3/11 had true macrocephaly (>2 SD above), 1/11 had borderline and relative macrocephaly.
Of the three with true macrocephaly, 1/3 had AR disease accompanied by tall stature, 2/3 had AD de novo variants. The borderline and relative macrocephaly patient was also for AD disease

However 2/11 patients (siblings) had microcephaly
Sources: Literature
Created: 15 Mar 2022, 12:15 a.m. | Last Modified: 15 Mar 2022, 12:15 a.m.
Panel Version: 0.102

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Beck-Fahrner syndrome MIM#618798

Publications

Created: 15 Mar 2022, 12:15 a.m.
Last Modified: 15 Mar 2022, 12:15 a.m.
Panel version: 0.102

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Beck-Fahrner syndrome MIM#618798
OMIM
613555
Clinvar variants
Variants in TET3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tet3 has been classified as Amber List (Moderate Evidence).

15 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tet3 has been classified as Amber List (Moderate Evidence).

15 Mar 2022, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: TET3 was added gene: TET3 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: TET3 were set to PMID: 31928709 Phenotypes for gene: TET3 were set to Beck-Fahrner syndrome MIM#618798 Review for gene: TET3 was set to AMBER