Genomics England

TTC37

tetratricopeptide repeat domain 37

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes TRICHOHEPATOENTERIC SYNDROME 222470
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes TRICHOHEPATOENTERIC SYNDROME
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Trichohepatoenteric syndrome 1, 222470
Green in Intestinal failure or congenital diarrhoea R-numbers: R331 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Trichohepatoenteric syndrome 1, OMM:222470
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Infantile enterocolitis & monogenic inflammatory bowel disease, Trichohepatoenteric syndrome 1 (Other metabolic disorders)
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 5.3	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