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| Structural eye disease v2.3 | TMEM5 |
Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: TMEM5. Tag Q2_22_NHS_review was removed from gene: TMEM5. |
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| Structural eye disease v2.3 | TMEM5 | Achchuthan Shanmugasundram reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v2.2 | TMEM5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v1.129 | TMEM5 | Ivone Leong Classified gene: TMEM5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.129 | TMEM5 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.129 | TMEM5 | Ivone Leong Gene: tmem5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.128 | TMEM5 |
Ivone Leong Tag Q2_22_rating tag was added to gene: TMEM5. Tag Q2_22_NHS_review tag was added to gene: TMEM5. |
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| Structural eye disease v1.128 | TMEM5 | Ivone Leong Phenotypes for gene: TMEM5 were changed from Muscular Dystrophy-Dystroglycanopathy, Type A, 10, MDDGA10, 615041 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.127 | TMEM5 | Ivone Leong Publications for gene: TMEM5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.101 | TMEM5 | Nicola Ragge edited their review of gene: TMEM5: Added comment: Alharbi et al. 2021, 3 families with Walker-Warburg syndrome and homozygous pathogenic TMEM5 variants, with affected individuals in all three families presenting with microphthalmia. No mention of structural eye anomalies in original paper (Vuillaumier-Barrot et al. 2012). Jae et al. 2013 describe 3 families with biallelic pathogenic TMEM5 variants (all parents heterozygous), affected individuals in 2/3 families have microphthalmia.; Changed rating: GREEN; Changed publications to: 33199158, 23217329, 23519211; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.91 | TMEM5 | Nicola Ragge reviewed gene: TMEM5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.89 | TMEM5 |
Ivone Leong Source NHS GMS was added to TMEM5. Source Expert Review Red was added to TMEM5. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Structural eye disease v0.88 | TMEM5 |
Ivone Leong Source Expert Review Amber was added to TMEM5. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Structural eye disease v0.60 | TMEM5 | Mariya Moosajee reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 10, MDDGA10; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.59 | TMEM5 | Ivone Leong commented on gene: TMEM5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.59 | TMEM5 | Ivone Leong Tag new-gene-name tag was added to gene: TMEM5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.59 | TMEM5 |
Ivone Leong gene: TMEM5 was added gene: TMEM5 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM5 were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 10, MDDGA10, 615041 |
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