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Severe Paediatric Disorders v1.110 CARD14 Arina Puzriakova Phenotypes for gene: CARD14 were changed from Psoriasis 2, 602723; Pityriasis rubra pilaris, 173200 to Pityriasis rubra pilaris, OMIM:173200; Psoriasis 2, OMIM:602723
Severe Paediatric Disorders v0.12 TYRP1 Louise Daugherty reviewed gene: TYRP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TYROBP Louise Daugherty reviewed gene: TYROBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 TYR Louise Daugherty reviewed gene: TYR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 TYRP1 Louise Daugherty Publications for gene TYRP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TYROBP Louise Daugherty Publications for gene TYROBP were updated from to 30847515
Severe Paediatric Disorders v0.11 TYR Louise Daugherty Publications for gene TYR were updated from to 30847515
Severe Paediatric Disorders v0.10 TYRP1 Louise Daugherty Added phenotypes Albinism, oculocutaneous, type III, 203290 for gene: TYRP1
Severe Paediatric Disorders v0.10 TYROBP Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 for gene: TYROBP
Severe Paediatric Disorders v0.10 TYR Louise Daugherty Added phenotypes Albinism, oculocutaneous, type IB, 606952; Albinism, oculocutaneous, type IA, 203100; Waardenburg syndrome/albinism, digenic, 103470 for gene: TYR
Severe Paediatric Disorders v0.10 TAT Louise Daugherty Added phenotypes Tyrosinemia, type II, 276600 for gene: TAT
Severe Paediatric Disorders v0.10 HPD Louise Daugherty Added phenotypes Tyrosinemia, type III, 276710; Hawkinsinuria, 140350 for gene: HPD
Severe Paediatric Disorders v0.10 FAH Louise Daugherty Added phenotypes Tyrosinemia, type I, 276700 for gene: FAH
Severe Paediatric Disorders v0.10 CARD14 Louise Daugherty Added phenotypes Psoriasis 2, 602723; Pityriasis rubra pilaris, 173200 for gene: CARD14
Severe Paediatric Disorders v0.10 ACADSB Louise Daugherty Added phenotypes 2-methylbutyrylglycinuria, 610006 for gene: ACADSB
Severe Paediatric Disorders v0.10 ACAD8 Louise Daugherty Added phenotypes Isobutyryl-CoA dehydrogenase deficiency, 611283 for gene: ACAD8
Severe Paediatric Disorders v0.9 TYRP1 Louise Daugherty Added phenotypes Albinism, oculocutaneous, type III, 203290 for gene: TYRP1
Severe Paediatric Disorders v0.9 TYROBP Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 for gene: TYROBP
Severe Paediatric Disorders v0.9 TYR Louise Daugherty Added phenotypes Albinism, oculocutaneous, type IB, 606952; Albinism, oculocutaneous, type IA, 203100; Waardenburg syndrome/albinism, digenic, 103470 for gene: TYR
Severe Paediatric Disorders v0.9 TAT Louise Daugherty Added phenotypes Tyrosinemia, type II, 276600 for gene: TAT
Severe Paediatric Disorders v0.9 HPD Louise Daugherty Added phenotypes Tyrosinemia, type III, 276710; Hawkinsinuria, 140350 for gene: HPD
Severe Paediatric Disorders v0.9 FAH Louise Daugherty Added phenotypes Tyrosinemia, type I, 276700 for gene: FAH
Severe Paediatric Disorders v0.9 CARD14 Louise Daugherty Added phenotypes Psoriasis 2, 602723; Pityriasis rubra pilaris, 173200 for gene: CARD14
Severe Paediatric Disorders v0.9 ACADSB Louise Daugherty Added phenotypes 2-methylbutyrylglycinuria, 610006 for gene: ACADSB
Severe Paediatric Disorders v0.9 ACAD8 Louise Daugherty Added phenotypes Isobutyryl-CoA dehydrogenase deficiency, 611283 for gene: ACAD8
Severe Paediatric Disorders v0.9 TYRP1 Louise Daugherty Added phenotypes Albinism, oculocutaneous, type III, 203290 for gene: TYRP1
Severe Paediatric Disorders v0.9 TYROBP Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 for gene: TYROBP
Severe Paediatric Disorders v0.9 TYR Louise Daugherty Added phenotypes Albinism, oculocutaneous, type IB, 606952; Albinism, oculocutaneous, type IA, 203100; Waardenburg syndrome/albinism, digenic, 103470 for gene: TYR
Severe Paediatric Disorders v0.9 TAT Louise Daugherty Added phenotypes Tyrosinemia, type II, 276600 for gene: TAT
Severe Paediatric Disorders v0.9 HPD Louise Daugherty Added phenotypes Tyrosinemia, type III, 276710; Hawkinsinuria, 140350 for gene: HPD
Severe Paediatric Disorders v0.9 FAH Louise Daugherty Added phenotypes Tyrosinemia, type I, 276700 for gene: FAH
Severe Paediatric Disorders v0.9 CARD14 Louise Daugherty Added phenotypes Psoriasis 2, 602723; Pityriasis rubra pilaris, 173200 for gene: CARD14
Severe Paediatric Disorders v0.9 ACADSB Louise Daugherty Added phenotypes 2-methylbutyrylglycinuria, 610006 for gene: ACADSB
Severe Paediatric Disorders v0.9 ACAD8 Louise Daugherty Added phenotypes Isobutyryl-CoA dehydrogenase deficiency, 611283 for gene: ACAD8
Severe Paediatric Disorders v0.8 TYRP1 Louise Daugherty Added phenotypes Albinism, oculocutaneous, type III, 203290 for gene: TYRP1
Severe Paediatric Disorders v0.8 TYROBP Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 for gene: TYROBP
Severe Paediatric Disorders v0.8 TYR Louise Daugherty Added phenotypes Albinism, oculocutaneous, type IB, 606952; Albinism, oculocutaneous, type IA, 203100; Waardenburg syndrome/albinism, digenic, 103470 for gene: TYR
Severe Paediatric Disorders v0.8 TAT Louise Daugherty Added phenotypes Tyrosinemia, type II, 276600 for gene: TAT
Severe Paediatric Disorders v0.8 HPD Louise Daugherty Added phenotypes Hawkinsinuria, 140350; Tyrosinemia, type III, 276710 for gene: HPD
Severe Paediatric Disorders v0.8 FAH Louise Daugherty Added phenotypes Tyrosinemia, type I, 276700 for gene: FAH
Severe Paediatric Disorders v0.8 CARD14 Louise Daugherty Added phenotypes Psoriasis 2, 602723; Pityriasis rubra pilaris, 173200 for gene: CARD14
Severe Paediatric Disorders v0.8 ACADSB Louise Daugherty Added phenotypes 2-methylbutyrylglycinuria, 610006 for gene: ACADSB
Severe Paediatric Disorders v0.8 ACAD8 Louise Daugherty Added phenotypes Isobutyryl-CoA dehydrogenase deficiency, 611283 for gene: ACAD8
Severe Paediatric Disorders v0.8 TYRP1 Louise Daugherty Mode of inheritance for gene TYRP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Albinism, oculocutaneous, type III, 203290 for gene: TYRP1
Severe Paediatric Disorders v0.8 TYROBP Louise Daugherty Mode of inheritance for gene TYROBP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 for gene: TYROBP
Severe Paediatric Disorders v0.8 TYR Louise Daugherty Mode of inheritance for gene TYR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Albinism, oculocutaneous, type IB, 606952; Albinism, oculocutaneous, type IA, 203100; Waardenburg syndrome/albinism, digenic, 103470 for gene: TYR
Severe Paediatric Disorders v0.8 TAT Louise Daugherty Mode of inheritance for gene TAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Tyrosinemia, type II, 276600 for gene: TAT
Severe Paediatric Disorders v0.7 TYRP1 Louise Daugherty Source Next Generation Children Project was added to TYRP1.
Severe Paediatric Disorders v0.7 TYROBP Louise Daugherty Source Next Generation Children Project was added to TYROBP.
Severe Paediatric Disorders v0.7 TYR Louise Daugherty Source Next Generation Children Project was added to TYR.
Severe Paediatric Disorders v0.5 TYRP1 Louise Daugherty Source Expert Review Green was added to TYRP1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TYROBP Louise Daugherty Source Expert Review Green was added to TYROBP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 TYR Louise Daugherty Source Expert Review Green was added to TYR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 TYRP1 Louise Daugherty gene: TYRP1 was added
gene: TYRP1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TYRP1 was set to
Severe Paediatric Disorders v0.4 TYROBP Louise Daugherty gene: TYROBP was added
gene: TYROBP was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TYROBP was set to
Severe Paediatric Disorders v0.4 TYR Louise Daugherty gene: TYR was added
gene: TYR was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TYR was set to