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| BabyScreen+ newborn screening v1.114 | HSD17B4 | Tommy Li Added phenotypes Perrault syndrome 1, AR (MIM#233400); D-bifunctional protein deficiency, AR (MIM#261515) for gene: HSD17B4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1270 | HSD17B4 | Zornitza Stark Marked gene: HSD17B4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1270 | HSD17B4 | Zornitza Stark Gene: hsd17b4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1270 | HSD17B4 | Zornitza Stark Phenotypes for gene: HSD17B4 were changed from D-bifunctional protein deficiency to D-bifunctional protein deficiency, AR (MIM#261515); Perrault syndrome 1, AR (MIM#233400) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1269 | HSD17B4 | Zornitza Stark Classified gene: HSD17B4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1269 | HSD17B4 | Zornitza Stark Gene: hsd17b4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1268 | HSD17B4 |
Zornitza Stark changed review comment from: Well established association with peroxisomal disorders. Congenital onset, variable severity. No specific treatment.; to: Well established association with peroxisomal disorders. Congenital onset, variable severity. SNHL is of childhood onset. No specific treatment. |
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| BabyScreen+ newborn screening v0.1268 | HSD17B4 | Zornitza Stark reviewed gene: HSD17B4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515), Perrault syndrome 1, AR (MIM#233400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | HSD17B4 |
Zornitza Stark gene: HSD17B4 was added gene: HSD17B4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency |
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