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| White matter disorders and cerebral calcification - narrow panel v2.9 | GLB1 | Sarah Leigh Tag Q2_21_rating was removed from gene: GLB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.9 | GLB1 | Sarah Leigh reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.8 | GLB1 |
Sarah Leigh Source NHS GMS was added to GLB1. Source Expert Review Green was added to GLB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v1.102 | GLB1 | Ivone Leong Classified gene: GLB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.102 | GLB1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. This gene is also Green on the White matter disorders - adult onset (Version 1.11). There is enough evidence to support a gene-disease assocation. GM1-gangliosidosis affect those in their infancy and juvenile stages as well. Therefore this gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.102 | GLB1 | Ivone Leong Gene: glb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.101 | GLB1 | Ivone Leong Tag Q2_21_rating tag was added to gene: GLB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.101 | GLB1 | Ivone Leong Phenotypes for gene: GLB1 were changed from GM1-gangliosidosis, type I, MIM# 230500; GM1-gangliosidosis, type II, MIM# 230600 to GM1-gangliosidosis, type I, OMIM:230500; GM1-gangliosidosis, type II, OMIM:230600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.14 | GLB1 |
Zornitza Stark gene: GLB1 was added gene: GLB1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLB1 were set to 25691190 Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type I, MIM# 230500; GM1-gangliosidosis, type II, MIM# 230600 Review for gene: GLB1 was set to GREEN gene: GLB1 was marked as current diagnostic Added comment: Well established gene-disease association, white matter changes are a feature. Sources: Expert list |
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