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| White matter disorders and cerebral calcification - narrow panel v2.9 | ABHD16A | Sarah Leigh Tag Q4_21_rating was removed from gene: ABHD16A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.9 | ABHD16A | Sarah Leigh reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.8 | ABHD16A |
Sarah Leigh Source NHS GMS was added to ABHD16A. Source Expert Review Green was added to ABHD16A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v1.205 | ABHD16A | Ivone Leong Entity copied from Intellectual disability v3.1359 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.205 | ABHD16A |
Ivone Leong gene: ABHD16A was added gene: ABHD16A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature,Expert Review Amber Q4_21_rating tags were added to gene: ABHD16A. Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD16A were set to 34587489 Phenotypes for gene: ABHD16A were set to Spastic paraplegia; Intellectual disability |
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