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| White matter disorders and cerebral calcification - narrow panel v2.9 | GLRX5 | Sarah Leigh Tag Q2_21_rating was removed from gene: GLRX5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.9 | GLRX5 | Sarah Leigh reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.8 | GLRX5 |
Sarah Leigh Source NHS GMS was added to GLRX5. Source Expert Review Green was added to GLRX5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v1.104 | GLRX5 | Ivone Leong Tag Q2_21_rating tag was added to gene: GLRX5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.104 | GLRX5 | Ivone Leong Classified gene: GLRX5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.104 | GLRX5 | 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 not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.104 | GLRX5 | Ivone Leong Gene: glrx5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.103 | GLRX5 | Ivone Leong Phenotypes for gene: GLRX5 were changed from Spasticity, childhood-onset, with hyperglycinemia, MIM# 616859 to Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.14 | GLRX5 |
Zornitza Stark gene: GLRX5 was added gene: GLRX5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLRX5 were set to 24334290; 30770271 Phenotypes for gene: GLRX5 were set to Spasticity, childhood-onset, with hyperglycinemia, MIM# 616859 Review for gene: GLRX5 was set to GREEN gene: GLRX5 was marked as current diagnostic Added comment: PMID: 24334290 - 3 patients (3 families) with non-ketotic hyperglycinemia, supported by functional studies. Patients had normal development with childhood-onset spastic paraplegia (3/3), spinal lesion (1/3), optic atrophy (1/3) and brain signal abnormalities involving the frontal and parietal white matter (2/3) PMID: 30770271 - 1 patient with childhood onset cavitating leukoencephalopathy. p.Lys51del is a recurring variant. Sources: Expert list |
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