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DDG2P

Gene: TTN

Green List (high evidence)
TTN (titin)
EnsemblGeneIds (GRCh38): ENSG00000155657
EnsemblGeneIds (GRCh37): ENSG00000155657
OMIM: 188840, Gene2Phenotype
TTN is in 15 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease Autosomal recessive titinopathy with arthrogryposis and/or myopathy , OMIM:611705 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 35605965;32778822;29575618;28040389;17444505;36495114;31660661;29691892).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal recessive titinopathy with arthrogryposis and/or myopathy , OMIM:611705

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Lu Raymond (university of cambridge )

Biallelic LOF are congenital titinopathy with arthrogryposis and thus should be included
Created: 9 Apr 2019, 3:01 p.m.
Created: 9 Apr 2019, 3:01 p.m.

Panel version: 1.9

Rebecca Foulger (Genomics England curator)

I don't know

PMID:29691892 identify 30 patients from 27 families with 2 pathogenic TTN variants in trans. All patients had prenatal or early onset hypotonia and/or congenital contractures. Cardiac involvement was present in 46% of patients. The authors state that: to date, 16 patients from 12 families with a recessive prenatal or infant onset form of titinopathy have been reported.
Created: 18 Apr 2019, 8:41 a.m.
PMID:28040389 (Fernández-Marmiesse et al 2017) report a newborn boy, first child of non-consanguineous parents with arthrogryposis multiplex congenita and severe axial hypotonia without cardiac involvement. The individual had a novel homozygous truncating variant c.38661_38665del in TTN, which is expressed only in the fetal skeletal isoform. A fetal ultrasound reported Clubfoot.
Created: 18 Apr 2019, 8:30 a.m.
PMID:29575618 (Chervinsky et al 2018) evaluate a consanguineous family of Moslem Bedouin origin with lethal congenital contracture syndrome and a homozygous c.36122delC (p. P12041Lfs*20) variant in TTN. 8 affected individuals (newborns and fetuses) were studied. Six of the affecteds were diagnosed prenatally by fetal ultrasound and two were diagnosed at birth. One pregnancy was complicated with fetal hydrops, and polyhydramnios was noted in at least three affecteds.
Created: 18 Apr 2019, 8:30 a.m.
Original DDG2P rating for CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY: possible. Original MOI for CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY: biallelic.
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 1.10

History Filter Activity

4 Oct 2023, Gel status: 3

Added New Source, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to TTN. Publications for gene: TTN were updated from 17444505; 29575618; 28040389; 29691892 to 31660661; 36495114; 32778822; 29575618; 29691892; 17444505; 35605965; 28040389 Rating Changed from Red List (low evidence) to Green List (high evidence)

18 Apr 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TTN were set to 17444505; 29575618; 28040389

18 Apr 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TTN were set to 17444505

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: TTN was added gene: TTN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 17444505 Phenotypes for gene: TTN were set to CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY 611705