TTC37

tetratricopeptide repeat domain 37
OMIM: 614589
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRICHOHEPATOENTERIC SYNDROME 222470
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRICHOHEPATOENTERIC SYNDROME
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile enterocolitis & monogenic inflammatory bowel disease, Trichohepatoenteric syndrome 1 (Other metabolic disorders)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichohepatoenteric syndrome 1, 222470
R-numbers: R331
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichohepatoenteric syndrome 1 222470
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichohepatoenteric syndrome 1, 222470, Intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, Hypogammaglobulinaemia, Trichohepatoenteric syndrome, immune dysfunction, Recurrent bacterial and viral infections, Abnormal hair findings: trichorrhexis nodosa, Predominantly Antibody Deficiencies