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| Structural eye disease v1.115 | LMX1B | Ivone Leong Tag Q2_21_rating was removed from gene: LMX1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.115 | LMX1B | Ivone Leong commented on gene: LMX1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.114 | LMX1B |
Ivone Leong Source Expert Review Green was added to LMX1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v1.101 | LMX1B | Nicola Ragge edited their review of gene: LMX1B: Added comment: Ghoumid et al. 2016: 9/51 families with LMX1B variants and NPS have glaucoma. There are many other reports.; Changed rating: GREEN; Changed publications to: 25898926; Changed phenotypes to: Nail-patella syndrome, Nail-patella syndrome 161200, 161200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.65 | LMX1B | Ivone Leong Classified gene: LMX1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.65 | LMX1B |
Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is Green on Glaucoma (developmental) (Version 1.33). "Glaucoma is a key feature of this condition. Sources: Expert list Zornitza Stark (Australian Genomics), 2 Aug 2020" This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. |
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| Structural eye disease v1.65 | LMX1B | Ivone Leong Gene: lmx1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.64 | LMX1B | Ivone Leong Phenotypes for gene: LMX1B were changed from Nail-patella syndrome, 161200 to Nail-patella syndrome, OMIM:161200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.63 | LMX1B | Ivone Leong Tag Q2_21_rating tag was added to gene: LMX1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | LMX1B | Nicola Ragge reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nail-patella syndrome, 161200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | LMX1B | Ivone Leong edited their review of gene: LMX1B: Changed phenotypes: Nail-patella syndrome, 161200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | LMX1B | Ivone Leong reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, 248500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | LMX1B |
Ivone Leong gene: LMX1B was added gene: LMX1B was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LMX1B were set to Nail-patella syndrome, 161200 |
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