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| Childhood onset hereditary spastic paraplegia v2.130 | GPT2 | Ivone Leong Tag Q4_21_rating was removed from gene: GPT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.130 | GPT2 | Sarah Leigh commented on gene: GPT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.129 | GPT2 |
Ivone Leong Source Expert Review Green was added to GPT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Childhood onset hereditary spastic paraplegia v2.111 | GPT2 | Arina Puzriakova Publications for gene: GPT2 were set to 29882329; 31471722; 27601654 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.110 | GPT2 | Arina Puzriakova Tag Q4_21_rating tag was added to gene: GPT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.110 | GPT2 | Arina Puzriakova Classified gene: GPT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.110 | GPT2 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to promote this gene to Green at the next GMS panel update. Spastic paraplegia is a frequently reported sign which develops later in the course of disease but is often severe. As this is a prominent feature of the condition there is value in including GPT2 on this panel. This gene is associated with a relevant phenotype in OMIM (OMIM:616281) but is not yet listed in G2P. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.110 | GPT2 | Arina Puzriakova Gene: gpt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.109 | GPT2 | Arina Puzriakova Phenotypes for gene: GPT2 were changed from Mental retardation, autosomal recessive 49 MIM#616281 to Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.15 | GPT2 |
Zornitza Stark gene: GPT2 was added gene: GPT2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPT2 were set to 29882329; 31471722; 27601654 Phenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49 MIM#616281 Review for gene: GPT2 was set to GREEN gene: GPT2 was marked as current diagnostic Added comment: Paediatric onset spastic paraglegia is a prominent feature of the condition, >3 unrelated families reported. Sources: Expert list |
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