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Intellectual disability

Gene: TMTC3

Green List (high evidence)

TMTC3 (transmembrane and tetratricopeptide repeat containing 3)
EnsemblGeneIds (GRCh38): ENSG00000139324
EnsemblGeneIds (GRCh37): ENSG00000139324
OMIM: 617218, Gene2Phenotype
TMTC3 is in 4 panels

2 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases. Although from one paper, there are 5 variants found across 6 families; three frameshift, one nonsense and one initiator codon variant
Created: 14 Nov 2017, 10:54 a.m.

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: Biallelic MOI supported by OMIM.
Created: 31 Oct 2017, 11:26 a.m.
Sufficient (>3) unrelated cases from different populations to support causation of MIM:617255, which presents with ID.
Created: 31 Oct 2017, 9:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lissencephaly 8, 617255 (includes intellectual disability)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lissencephaly 8, 617255
  • includes intellectual disability
OMIM
617218
Clinvar variants
Variants in TMTC3
Penetrance
None
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

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 Dec 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TMTC3 were set to Lissencephaly 8, 617255; includes intellectual disability

29 Nov 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TMTC3 was added to Intellectual disability panel. Sources: Expert Review Green

29 Nov 2017, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

TMTC3 was created by Ellen McDonagh