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| White matter disorders and cerebral calcification - narrow panel v1.223 | AP4B1 | Ivone Leong Tag for-review was removed from gene: AP4B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.223 | AP4B1 | Sarah Leigh commented on gene: AP4B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.223 | AP4B1 |
Ivone Leong Source Expert Review Green was added to AP4B1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v1.30 | AP4B1 | Arina Puzriakova Tag for-review tag was added to gene: AP4B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.30 | AP4B1 | Arina Puzriakova Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive MIM#614066 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.29 | AP4B1 | Arina Puzriakova Publications for gene: AP4B1 were set to 29193663 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.28 | AP4B1 | Arina Puzriakova Classified gene: AP4B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.28 | AP4B1 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Amber but there is sufficient evidence to rate Green at the next GMS panel update (added 'for-review' tag). Literature search revealed at least 24 unrelated published families with biallelic variants in this gene. Disorder mainly characterised by HSP but white matter loss is reported in over half of patients (see Publications list) |
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| White matter disorders and cerebral calcification - narrow panel v1.28 | AP4B1 | Arina Puzriakova Gene: ap4b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.14 | AP4B1 |
Zornitza Stark gene: AP4B1 was added gene: AP4B1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to 29193663 Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive MIM#614066 Review for gene: AP4B1 was set to GREEN gene: AP4B1 was marked as current diagnostic Added comment: White matter changes have been reported as a feature of the condition in at least ten unrelated cases with biallelic variants. The onset of the condition is in childhood. Sources: Expert list |
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