Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Structural eye disease v3.79 | SMG8 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: SMG8. Tag Q4_23_NHS_review was removed from gene: SMG8. |
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Structural eye disease v3.79 | SLC25A24 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: SLC25A24. Tag Q4_23_NHS_review was removed from gene: SLC25A24. |
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Structural eye disease v3.79 | RHOA |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: RHOA. Tag Q4_23_NHS_review was removed from gene: RHOA. |
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Structural eye disease v3.79 | OFD1 |
Arina Puzriakova Tag Q3_23_promote_green was removed from gene: OFD1. Tag Q3_23_NHS_review was removed from gene: OFD1. |
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Structural eye disease v3.79 | NUP188 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: NUP188. Tag Q4_23_NHS_review was removed from gene: NUP188. |
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Structural eye disease v3.79 | MIR204 |
Arina Puzriakova Tag Q3_23_promote_green was removed from gene: MIR204. Tag Q3_23_NHS_review was removed from gene: MIR204. |
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Structural eye disease v3.79 | KIF11 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: KIF11. Tag Q4_23_NHS_review was removed from gene: KIF11. |
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Structural eye disease v3.79 | KIAA0586 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: KIAA0586. Tag Q4_23_NHS_review was removed from gene: KIAA0586. |
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Structural eye disease v3.79 | KDM6A |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: KDM6A. Tag Q4_23_NHS_review was removed from gene: KDM6A. |
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Structural eye disease v3.79 | EPHA2 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: EPHA2. Tag Q4_23_MOI was removed from gene: EPHA2. Tag Q4_23_NHS_review was removed from gene: EPHA2. |
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Structural eye disease v3.79 | CRYBB2 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: CRYBB2. Tag Q4_23_NHS_review was removed from gene: CRYBB2. |
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Structural eye disease v3.79 | BMPR1B |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: BMPR1B. Tag Q4_23_NHS_review was removed from gene: BMPR1B. |
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Structural eye disease v3.79 | ARHGAP35 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: ARHGAP35. Tag Q4_23_NHS_review was removed from gene: ARHGAP35. |
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Structural eye disease v3.79 | ANK3 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: ANK3. Tag Q4_23_NHS_review was removed from gene: ANK3. |
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Structural eye disease v3.79 | ALX1 |
Arina Puzriakova Tag Q3_23_promote_green was removed from gene: ALX1. Tag Q3_23_NHS_review was removed from gene: ALX1. |
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Structural eye disease v3.78 | SMG8 |
Arina Puzriakova Source NHS GMS was added to SMG8. Source Expert Review Green was added to SMG8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v3.78 | RHOA |
Arina Puzriakova Source NHS GMS was added to RHOA. Source Expert Review Green was added to RHOA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v3.78 | NUP188 |
Arina Puzriakova Source NHS GMS was added to NUP188. Source Expert Review Green was added to NUP188. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v3.78 | KIAA0586 |
Arina Puzriakova Source NHS GMS was added to KIAA0586. Source Expert Review Green was added to KIAA0586. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v3.78 | BMPR1B |
Arina Puzriakova Source NHS GMS was added to BMPR1B. Source Expert Review Green was added to BMPR1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v3.78 | ARHGAP35 |
Arina Puzriakova Source NHS GMS was added to ARHGAP35. Source Expert Review Green was added to ARHGAP35. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v3.78 | ANK3 |
Arina Puzriakova Source NHS GMS was added to ANK3. Source Expert Review Green was added to ANK3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v3.69 | SLC25A24 | Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: SLC25A24. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v3.69 | KIF11 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: KIF11. Tag Q4_23_NHS_review tag was added to gene: KIF11. |
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Structural eye disease v3.61 | KIAA0586 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: KIAA0586. Tag Q4_23_NHS_review tag was added to gene: KIAA0586. |
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Structural eye disease v3.61 | CRYBB2 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CRYBB2. Tag Q4_23_NHS_review tag was added to gene: CRYBB2. |
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Structural eye disease v3.56 | GDF3 |
Sarah Leigh Tag Q4_23_promote_green was removed from gene: GDF3. Tag Q4_23_NHS_review was removed from gene: GDF3. |
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Structural eye disease v3.56 | RHOA |
Sarah Leigh Tag watchlist was removed from gene: RHOA. Tag mosaicism tag was added to gene: RHOA. Tag Q4_23_promote_green tag was added to gene: RHOA. Tag Q4_23_NHS_review tag was added to gene: RHOA. |
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Structural eye disease v3.52 | NUP188 |
Sarah Leigh Tag watchlist was removed from gene: NUP188. Tag Q4_23_promote_green tag was added to gene: NUP188. Tag Q4_23_NHS_review tag was added to gene: NUP188. |
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Structural eye disease v3.50 | KDM6A |
Sarah Leigh Tag Skewed X-inactivation tag was added to gene: KDM6A. Tag Q4_23_promote_green tag was added to gene: KDM6A. Tag Q4_23_NHS_review tag was added to gene: KDM6A. |
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Structural eye disease v3.43 | GDF3 |
Sarah Leigh Tag Q4_23_promote_green tag was added to gene: GDF3. Tag Q4_23_NHS_review tag was added to gene: GDF3. |
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Structural eye disease v3.39 | EPHA2 |
Sarah Leigh Tag Q4_23_promote_green tag was added to gene: EPHA2. Tag Q4_23_MOI tag was added to gene: EPHA2. Tag Q4_23_NHS_review tag was added to gene: EPHA2. |
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Structural eye disease v3.37 | SMG8 |
Sarah Leigh Tag Q4_23_promote_green tag was added to gene: SMG8. Tag Q4_23_NHS_review tag was added to gene: SMG8. |
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Structural eye disease v3.28 | BMPR1B |
Sarah Leigh Tag Q4_23_promote_green tag was added to gene: BMPR1B. Tag Q4_23_NHS_review tag was added to gene: BMPR1B. |
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Structural eye disease v3.26 | ANK3 |
Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ANK3. Tag Q4_23_NHS_review tag was added to gene: ANK3. |
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Structural eye disease v3.22 | ARHGAP35 |
Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ARHGAP35. Tag Q4_23_NHS_review tag was added to gene: ARHGAP35. |
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Structural eye disease v3.21 | ALX1 |
Sarah Leigh Tag Q3_23_promote_green tag was added to gene: ALX1. Tag Q3_23_NHS_review tag was added to gene: ALX1. |
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Structural eye disease v3.9 | OFD1 |
Sarah Leigh Tag Q3_23_promote_green tag was added to gene: OFD1. Tag Q3_23_NHS_review tag was added to gene: OFD1. |
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Structural eye disease v3.8 | MIR204 |
Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR204. Tag Q3_23_NHS_review tag was added to gene: MIR204. |
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Structural eye disease v2.3 | WLS |
Achchuthan Shanmugasundram Tag Q1_22_NHS_review was removed from gene: WLS. Tag Q2_22_rating was removed from gene: WLS. |
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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 | PACS1 |
Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: PACS1. Tag Q2_22_NHS_review was removed from gene: PACS1. |
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Structural eye disease v2.3 | HHAT |
Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: HHAT. Tag Q1_22_NHS_review was removed from gene: HHAT. |
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Structural eye disease v2.3 | CRIM1 |
Achchuthan Shanmugasundram Tag Q2_21_NHS_review was removed from gene: CRIM1. Tag Q2_22_rating was removed from gene: CRIM1. |
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Structural eye disease v2.2 | WLS |
Achchuthan Shanmugasundram Source Expert Review Green was added to WLS. Source NHS GMS was added to WLS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v2.2 | PACS1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PACS1. Source NHS GMS was added to PACS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v2.2 | HHAT |
Achchuthan Shanmugasundram Source Expert Review Green was added to HHAT. Source NHS GMS was added to HHAT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v1.149 | TSC2 | Eleanor Williams Tag Q1_22_NHS_review was removed from gene: TSC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.132 | ZNF408 | Ivone Leong Tag Q1_22_NHS_review was removed from gene: ZNF408. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.132 | WRAP73 | Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red based on Expert review by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.125 | PACS1 |
Ivone Leong Tag Q2_21_rating was removed from gene: PACS1. Tag Q1_22_NHS_review was removed from gene: PACS1. Tag Q2_22_rating tag was added to gene: PACS1. Tag Q2_22_NHS_review tag was added to gene: PACS1. |
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Structural eye disease v1.124 | CRIM1 | Ivone Leong Tag Q2_21_NHS_review tag was added to gene: CRIM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.115 | CREBBP |
Ivone Leong Tag Q2_21_rating was removed from gene: CREBBP. Tag Q1_22_NHS_review was removed from gene: CREBBP. |
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Structural eye disease v1.115 | ASPH |
Ivone Leong Tag Q3_21_rating was removed from gene: ASPH. Tag Q3_21_NHS_review was removed from gene: ASPH. |
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Structural eye disease v1.115 | TEK | Ivone Leong commented on gene: TEK: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.115 | OCRL | Ivone Leong commented on gene: OCRL: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.115 | IFIH1 | Ivone Leong commented on gene: IFIH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.115 | CREBBP | Ivone Leong commented on gene: CREBBP: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.115 | ASPH | Ivone Leong commented on gene: ASPH: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.113 | CDH2 | Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.113 | NF2 | Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.113 | DYRK1A |
Ivone Leong Tag for-review was removed from gene: DYRK1A. Tag Q1_22_NHS_review was removed from gene: DYRK1A. |
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Structural eye disease v1.113 | WDR37 |
Ivone Leong Tag for-review was removed from gene: WDR37. Tag Q1_22_NHS_review was removed from gene: WDR37. |
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Structural eye disease v1.113 | CDON |
Ivone Leong Tag for-review was removed from gene: CDON. Tag Q1_22_NHS_review was removed from gene: CDON. |
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Structural eye disease v1.113 | FZD5 |
Ivone Leong Tag for-review was removed from gene: FZD5. Tag Q1_22_NHS_review was removed from gene: FZD5. |
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Structural eye disease v1.113 | CAPN15 |
Ivone Leong Tag for-review was removed from gene: CAPN15. Tag Q1_22_NHS_review was removed from gene: CAPN15. |
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Structural eye disease v1.113 | CENPF |
Ivone Leong Tag for-review was removed from gene: CENPF. Tag Q1_22_NHS_review was removed from gene: CENPF. |
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Structural eye disease v1.113 | CRYBB1 |
Ivone Leong Tag for-review was removed from gene: CRYBB1. Tag Q1_22_NHS_review was removed from gene: CRYBB1. |
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Structural eye disease v1.113 | NF2 | Ivone Leong commented on gene: NF2: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.113 | DYRK1A | Ivone Leong commented on gene: DYRK1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.113 | WDR37 | Ivone Leong commented on gene: WDR37: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.113 | CDON | Ivone Leong commented on gene: CDON: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.113 | FZD5 | Ivone Leong commented on gene: FZD5: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.113 | CENPF | Ivone Leong commented on gene: CENPF: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.113 | CRYBB1 | Ivone Leong commented on gene: CRYBB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.109 | CREBBP | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CREBBP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.108 | WDR37 | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: WDR37. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.108 | FZD5 | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: FZD5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.107 | DYRK1A | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: DYRK1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.106 | CRYBB1 | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CRYBB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.106 | CENPF | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CENPF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.106 | CDON | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CDON. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.106 | CAPN15 | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CAPN15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.100 | ZNF408 |
Ivone Leong gene: ZNF408 was added gene: ZNF408 was added to Structural eye disease. Sources: Expert list Q1_22_NHS_review tags were added to gene: ZNF408. Mode of inheritance for gene: ZNF408 was set to Unknown Publications for gene: ZNF408 were set to 30998249 Phenotypes for gene: ZNF408 were set to Retinitis pigmentosa 72, OMIM:616469 Review for gene: ZNF408 was set to RED Added comment: Sources: Expert list |
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Structural eye disease v1.99 | TSC2 |
Ivone Leong gene: TSC2 was added gene: TSC2 was added to Structural eye disease. Sources: Expert list Q1_22_NHS_review tags were added to gene: TSC2. Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TSC2 were set to 33110010; 11264130 Phenotypes for gene: TSC2 were set to Tuberous sclerosis-2, OMIM:613254 Review for gene: TSC2 was set to AMBER Added comment: Sources: Expert list |
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Structural eye disease v1.97 | WLS |
Ivone Leong gene: WLS was added gene: WLS was added to Structural eye disease. Sources: Expert list Q1_22_NHS_review tags were added to gene: WLS. Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WLS were set to 34587386; 25715397 Phenotypes for gene: WLS were set to Zaki syndrome, OMIM:619648 Review for gene: WLS was set to AMBER Added comment: Sources: Expert list |
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Structural eye disease v1.96 | PACS1 |
Ivone Leong gene: PACS1 was added gene: PACS1 was added to Structural eye disease. Sources: Expert list Q1_22_NHS_review tags were added to gene: PACS1. Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PACS1 were set to 29550517; 26842493; 34631081; 34468556; 34068396 Phenotypes for gene: PACS1 were set to Schuurs-Hoeijmakers syndrome, OMIM:615009 Review for gene: PACS1 was set to AMBER Added comment: Sources: Expert list |
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Structural eye disease v1.95 | HHAT |
Ivone Leong gene: HHAT was added gene: HHAT was added to Structural eye disease. Sources: Expert list Q1_22_NHS_review tags were added to gene: HHAT. Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HHAT were set to 33749989; 24784881 Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome, OMIM:600092 Review for gene: HHAT was set to AMBER Added comment: Sources: Expert list |
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Structural eye disease v1.76 | ASPH |
Ivone Leong Tag Q3_21_rating tag was added to gene: ASPH. Tag Q3_21_NHS_review tag was added to gene: ASPH. |
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Structural eye disease v1.75 | ASPH | Ivone Leong Added comment: Comment on list classification: New gene added by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). There are >3 unrelated cases, therefore there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.42 | DYRK1A | Ivone Leong Added comment: Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). There is enough evidence to support a gene-disease association. This gene should be promoted to Green status at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.41 | CDK5RAP2 | Ivone Leong Added comment: Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.37 | TOGARAM1 | Ivone Leong Added comment: Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). Based on the available evidence this gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.36 | CDON | Ivone Leong Added comment: Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). This gene should be promoted from Amber to Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.34 | RHOA | Ivone Leong Added comment: Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). Based on the available evidence this gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.33 | CENPF | Ivone Leong changed review comment from: Comment on list classification: Promoted from Red to Amber. This gene should be promoted to Green status when the panel is reviewed.; to: Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). This gene should be promoted to Green status when the panel is reviewed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.33 | NUP188 | Ivone Leong Added comment: Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). This gene has been promoted from Red to Amber based on available evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.30 | CRYBB1 | Ivone Leong commented on gene: CRYBB1: This gene has been tagged "for-review" at the next GMS panel review and should be promoted to Green based on evidence provided by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.95 | RARA |
Ivone Leong gene: RARA was added gene: RARA was added to Structural eye disease. Sources: Expert list Mode of inheritance for gene: RARA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RARA were set to 31343737 Phenotypes for gene: RARA were set to Coloboma Review for gene: RARA was set to RED Added comment: Gene added on behalf of Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). There is currently only 1 reported case of a de novo variant in RARA in a patient with symptoms overlapping those described in RARB patients (coloboma, muscular hypotonia, dilated pulmonary artery, ectopic kidney). Therefore, this gene has been given a Red rating until further evidence is available. Sources: Expert list |
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Structural eye disease v0.89 | MYRF |
Ivone Leong gene: MYRF was added gene: MYRF was added to Structural eye disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYRF were set to 31266062 |
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Structural eye disease v0.89 | CSPP1 |
Ivone Leong Source NHS GMS was added to CSPP1. Source Expert Review Red was added to CSPP1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Structural eye disease v0.89 | WNT3 |
Ivone Leong Source NHS GMS was added to WNT3. Source Expert Review Red was added to WNT3. Publications for gene WNT3 were changed from to 14872406 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Structural eye disease v0.89 | TUBB |
Ivone Leong Source NHS GMS was added to TUBB. Publications for gene TUBB were changed from to 26637975 |
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Structural eye disease v0.89 | SNX3 |
Ivone Leong Source NHS GMS was added to SNX3. Source Expert Review Red was added to SNX3. Publications for gene SNX3 were changed from to 12471201 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Structural eye disease v0.89 | SMG9 |
Ivone Leong Source NHS GMS was added to SMG9. Publications for gene SMG9 were changed from to 27018474 |
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Structural eye disease v0.89 | SLC25A24 |
Ivone Leong Source NHS GMS was added to SLC25A24. Publications for gene SLC25A24 were changed from to 29100093 |
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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 v0.89 | RIPK4 |
Ivone Leong Source Expert Review Green was added to RIPK4. Source NHS GMS was added to RIPK4. Publications for gene RIPK4 were changed from to 22197489; 23074676; 22197488 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v0.89 | RERE |
Ivone Leong Source Expert Review Green was added to RERE. Source NHS GMS was added to RERE. Publications for gene RERE were changed from to 27087320; 29330883 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v0.89 | POMGNT2 |
Ivone Leong Source NHS GMS was added to POMGNT2. Publications for gene POMGNT2 were changed from to 22958903 |
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Structural eye disease v0.89 | POMGNT1 |
Ivone Leong Source Expert Review Green was added to POMGNT1. Source NHS GMS was added to POMGNT1. Publications for gene POMGNT1 were changed from to 0961548; 19452620; 28765568; 11709191; 19679478 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v0.89 | FANCL |
Ivone Leong Source NHS GMS was added to FANCL. Publications for gene FANCL were changed from to 25754594 |
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Structural eye disease v0.89 | NDUFB11 |
Ivone Leong Source NHS GMS was added to NDUFB11. Source Expert Review Red was added to NDUFB11. Publications for gene NDUFB11 were changed from to 25772934 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Structural eye disease v0.89 | MAPRE2 |
Ivone Leong Source Expert Review Green was added to MAPRE2. Source NHS GMS was added to MAPRE2. Publications for gene MAPRE2 were changed from to 26637975 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v0.89 | KIF11 |
Ivone Leong Source NHS GMS was added to KIF11. Publications for gene KIF11 were changed from to 27212378 |
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Structural eye disease v0.89 | KDM6A |
Ivone Leong Source NHS GMS was added to KDM6A. Publications for gene KDM6A were changed from to 29617172; 29300383 |
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Structural eye disease v0.89 | IKBKG |
Ivone Leong Source NHS GMS was added to IKBKG. Source Expert Review Red was added to IKBKG. Publications for gene IKBKG were changed from to 31119873; 20499493; 30905793 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Structural eye disease v0.89 | FKTN |
Ivone Leong Source Expert Review Green was added to FKTN. Source NHS GMS was added to FKTN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v0.89 | FANCI |
Ivone Leong Source NHS GMS was added to FANCI. Source Expert Review Red was added to FANCI. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Structural eye disease v0.89 | FANCE |
Ivone Leong Source NHS GMS was added to FANCE. Source Expert Review Red was added to FANCE. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Structural eye disease v0.89 | FANCD2 |
Ivone Leong Source NHS GMS was added to FANCD2. Source Expert Review Red was added to FANCD2. Publications for gene FANCD2 were changed from to 12893777 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Structural eye disease v0.89 | FANCA |
Ivone Leong Source NHS GMS was added to FANCA. Source Expert Review Red was added to FANCA. Publications for gene FANCA were changed from to 8502512; 12913077 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Structural eye disease v0.89 | ESCO2 |
Ivone Leong Source Expert Review Green was added to ESCO2. Source NHS GMS was added to ESCO2. Publications for gene ESCO2 were changed from to 16380922; 19574259 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v0.89 | DOCK6 |
Ivone Leong Source Expert Review Green was added to DOCK6. Source NHS GMS was added to DOCK6. Publications for gene DOCK6 were changed from to 25824905 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v0.89 | DAG1 |
Ivone Leong Source NHS GMS was added to DAG1. Publications for gene DAG1 were changed from to 25934851; 24052401 |
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Structural eye disease v0.89 | COX7B |
Ivone Leong Source NHS GMS was added to COX7B. Publications for gene COX7B were changed from to 23122588 |
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Structural eye disease v0.89 | B3GALNT2 |
Ivone Leong Source Expert Review Green was added to B3GALNT2. Source NHS GMS was added to B3GALNT2. Publications for gene B3GALNT2 were changed from to 23453667 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v0.89 | ALX3 |
Ivone Leong Source NHS GMS was added to ALX3. Source Expert Review Red was added to ALX3. Publications for gene ALX3 were changed from to 19409524 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Structural eye disease v0.89 | ALX1 |
Ivone Leong Source NHS GMS was added to ALX1. Publications for gene ALX1 were changed from to 20451171; 23059813 |
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Structural eye disease v0.76 | NHS | Nicola Ragge reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28922055, 23566852, 17417607 ; Phenotypes: Cataract 40, X-linked, Nance-Horan syndrome, 302200, 302350; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.49 | NHS | Ivone Leong edited their review of gene: NHS: Changed phenotypes: Cataract 40, X-linked, Nance-Horan syndrome, 302200, 302350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.39 | NHS | Ivone Leong reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28922055, 23566852, 17417607 ; Phenotypes: Hajdu-Cheney syndrome, 102500, Alagille syndrome 2, 610205; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | ZNF513 |
Ivone Leong Source NHS GMS was added to ZNF513. Mode of inheritance for gene ZNF513 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 58, 613617 for gene: ZNF513 |
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Structural eye disease v0.15 | ZNF423 |
Ivone Leong Source NHS GMS was added to ZNF423. Mode of inheritance for gene ZNF423 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Nephronophthisis 14, 614844; Joubert syndrome 19, 614844 for gene: ZNF423 |
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Structural eye disease v0.15 | XPC |
Ivone Leong Source NHS GMS was added to XPC. Mode of inheritance for gene XPC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, 278720 for gene: XPC |
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Structural eye disease v0.15 | XPA |
Ivone Leong Source NHS GMS was added to XPA. Mode of inheritance for gene XPA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A, 278700 for gene: XPA |
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Structural eye disease v0.15 | WT1 |
Ivone Leong Source NHS GMS was added to WT1. Mode of inheritance for gene WT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes WILMS TUMOR,ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME, 194072 for gene: WT1 |
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Structural eye disease v0.15 | WHRN |
Ivone Leong Source NHS GMS was added to WHRN. Mode of inheritance for gene WHRN was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Usher syndrome, type 2D, 611383 for gene: WHRN |
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Structural eye disease v0.15 | WFS1 |
Ivone Leong Source NHS GMS was added to WFS1. Mode of inheritance for gene WFS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Wolfram-like syndrome, autosomal dominant, 614296; Wolfram syndrome, 222300; ?Cataract 41, 116400 for gene: WFS1 |
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Structural eye disease v0.15 | WDR36 |
Ivone Leong Source NHS GMS was added to WDR36. Mode of inheritance for gene WDR36 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Glaucoma 1, open angle, G, 609887 for gene: WDR36 |
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Structural eye disease v0.15 | WDPCP |
Ivone Leong Source NHS GMS was added to WDPCP. Mode of inheritance for gene WDPCP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Bardet-Biedl syndrome 15, 615992 for gene: WDPCP |
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Structural eye disease v0.15 | VCAN |
Ivone Leong Source NHS GMS was added to VCAN. Mode of inheritance for gene VCAN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Wagner syndrome 1, 143200 for gene: VCAN |
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Structural eye disease v0.15 | VAX1 |
Ivone Leong Source NHS GMS was added to VAX1. Mode of inheritance for gene VAX1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Microphthalmia, syndromic 11, 614402 for gene: VAX1 Publications for gene VAX1 were changed from to 10601035; 22095910 |
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Structural eye disease v0.15 | USH2A |
Ivone Leong Source NHS GMS was added to USH2A. Mode of inheritance for gene USH2A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Usher syndrome type 2A, 276901; Retinitis pigmentosa 39, 613809 for gene: USH2A |
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Structural eye disease v0.15 | USH1G |
Ivone Leong Source NHS GMS was added to USH1G. Mode of inheritance for gene USH1G was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Usher syndrome, type 1G, 606943 for gene: USH1G |
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Structural eye disease v0.15 | USH1C |
Ivone Leong Source NHS GMS was added to USH1C. Mode of inheritance for gene USH1C was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Deafness, autosomal recessive 18A, 602092; Usher syndrome type 1C, 276904 for gene: USH1C |
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Structural eye disease v0.15 | UNC119 |
Ivone Leong Source NHS GMS was added to UNC119. Mode of inheritance for gene UNC119 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Cone-rod dystrophy; Immunodeficiency 13, 615518 for gene: UNC119 |
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Structural eye disease v0.15 | TYRP1 |
Ivone Leong Source NHS GMS was added to TYRP1. Mode of inheritance for gene TYRP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271; Albinism, oculocutaneous, type III, 203290 for gene: TYRP1 Publications for gene TYRP1 were changed from to 10644000 |
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Structural eye disease v0.15 | TYR |
Ivone Leong Source NHS GMS was added to TYR. Mode of inheritance for gene TYR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes [Skin/hair/eye pigmentation 3, blue/green eyes]; Albinism, oculocutaneous, type IB, 606952; Waardenburg syndrome/albinism, digenic, 103470; [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800; Albinism, oculocutaneous, type IA, 203100; {Melanoma, cutaneous malignant, susceptibility to, 8} for gene: TYR Publications for gene TYR were changed from to 28778995 |
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Structural eye disease v0.15 | TULP1 |
Ivone Leong Source NHS GMS was added to TULP1. Mode of inheritance for gene TULP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 600132; Retinitis pigmentosa 14; Leber congenital amaurosis 15; 613843 for gene: TULP1 |
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Structural eye disease v0.15 | TTC8 |
Ivone Leong Source NHS GMS was added to TTC8. Mode of inheritance for gene TTC8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 51, 613464; Bardet-Biedl syndrome 8, 615985 for gene: TTC8 |
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Structural eye disease v0.15 | TTC21B |
Ivone Leong Source NHS GMS was added to TTC21B. Mode of inheritance for gene TTC21B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, 613819 for gene: TTC21B |
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Structural eye disease v0.15 | TSPAN12 |
Ivone Leong Source NHS GMS was added to TSPAN12. Mode of inheritance for gene TSPAN12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Exudative vitreoretinopathy 5, 613310 for gene: TSPAN12 |
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Structural eye disease v0.15 | TRPM1 |
Ivone Leong Source NHS GMS was added to TRPM1. Mode of inheritance for gene TRPM1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 for gene: TRPM1 |
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Structural eye disease v0.15 | TRIM44 |
Ivone Leong Source NHS GMS was added to TRIM44. Added phenotypes ANIRIDIA 3, 617142 for gene: TRIM44 |
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Structural eye disease v0.15 | TRIM32 |
Ivone Leong Source NHS GMS was added to TRIM32. Mode of inheritance for gene TRIM32 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 11, 615988; Muscular dystrophy, limb-girdle, type 2H, 254110 for gene: TRIM32 |
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Structural eye disease v0.15 | TPP1 |
Ivone Leong Source NHS GMS was added to TPP1. Mode of inheritance for gene TPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500 for gene: TPP1 |
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Structural eye disease v0.15 | TP53BP2 |
Ivone Leong Source NHS GMS was added to TP53BP2. Publications for gene TP53BP2 were changed from 28150229 to 27447114; 28150229 |
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Structural eye disease v0.15 | TOPORS |
Ivone Leong Source NHS GMS was added to TOPORS. Mode of inheritance for gene TOPORS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 31, 609923 for gene: TOPORS |
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Structural eye disease v0.15 | TMEM67 |
Ivone Leong Source NHS GMS was added to TMEM67. Source Expert Review Green was added to TMEM67. Added phenotypes Joubert syndrome 6, 610688; {Bardet-Biedl syndrome 14, modifer of}, 615991; COACH syndrome, 216360; Meckel syndrome 3, 607361; Nephronophthisis 11, 613550 for gene: TMEM67 Publications for gene TMEM67 were changed from 19058225 to 30055837; 19058225 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Structural eye disease v0.15 | TMEM237 |
Ivone Leong Source NHS GMS was added to TMEM237. Source Expert Review Amber was added to TMEM237. Added phenotypes Joubert syndrome 14, 614424 for gene: TMEM237 Publications for gene TMEM237 were changed from 22152675 to 30055837; 22152675 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Structural eye disease v0.15 | TMEM231 |
Ivone Leong Source NHS GMS was added to TMEM231. Added phenotypes Joubert syndrome 20, 614970; Meckel syndrome 11, 615397 for gene: TMEM231 Publications for gene TMEM231 were changed from 23012439; 23349226 to 23349226; 23012439 |
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Structural eye disease v0.15 | TMEM216 |
Ivone Leong Source NHS GMS was added to TMEM216. Source Expert Review Amber was added to TMEM216. Added phenotypes Joubert syndrome 2, 608091; Meckel syndrome 2, 603194 for gene: TMEM216 Publications for gene TMEM216 were changed from 20036350; 22282472; 20512146 to 30055837; 20512146 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Structural eye disease v0.15 | TMEM138 |
Ivone Leong Source NHS GMS was added to TMEM138. Added phenotypes Joubert syndrome 16, 614465 for gene: TMEM138 |
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Structural eye disease v0.15 | TMEM126A |
Ivone Leong Source NHS GMS was added to TMEM126A. Mode of inheritance for gene TMEM126A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Optic atrophy, 612989 for gene: TMEM126A |
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Structural eye disease v0.15 | TIMP3 |
Ivone Leong Source NHS GMS was added to TIMP3. Mode of inheritance for gene TIMP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Sorsby fundus dystrophy, 136900 for gene: TIMP3 |
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Structural eye disease v0.15 | TIMM8A |
Ivone Leong Source NHS GMS was added to TIMM8A. Mode of inheritance for gene TIMM8A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A |
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Structural eye disease v0.15 | TFAP2A |
Ivone Leong Source NHS GMS was added to TFAP2A. Source Expert Review Green was added to TFAP2A. Added phenotypes Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620 for gene: TFAP2A Publications for gene TFAP2A were changed from 10767004, 18423521 to 19685247; 18423521 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Structural eye disease v0.15 | TENM3 |
Ivone Leong Source NHS GMS was added to TENM3. Source Expert Review Green was added to TENM3. Added phenotypes Microphthalmia, isolated, with coloboma 9, 615145 for gene: TENM3 Publications for gene TENM3 were changed from 22766609, 27103084, 24859618 to 30513139; 24859618; 29753094; 27103084; 22766609 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Structural eye disease v0.15 | TCTN3 |
Ivone Leong Source NHS GMS was added to TCTN3. Added phenotypes Joubert syndrome 18, 614815; Orofaciodigital syndrome IV, 258860 for gene: TCTN3 Publications for gene TCTN3 were changed from 25118024 to 29725084; 25118024 |
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Structural eye disease v0.15 | TCTN2 |
Ivone Leong Source NHS GMS was added to TCTN2. Added phenotypes Joubert syndrome 24, 616654; Meckel syndrome 8, 613885 for gene: TCTN2 |
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Structural eye disease v0.15 | TCTN1 |
Ivone Leong Source NHS GMS was added to TCTN1. Added phenotypes Joubert syndrome 13, 614173 for gene: TCTN1 Publications for gene TCTN1 were changed from 21725307; 22693042 to 22693042; 21725307 |
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Structural eye disease v0.15 | SPINT2 |
Ivone Leong Source NHS GMS was added to SPINT2. Added phenotypes DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES, 270420 for gene: SPINT2 Publications for gene SPINT2 were changed from 29575628; 24142340 to 29575628; 24142340, |
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Structural eye disease v0.15 | SPATA7 |
Ivone Leong Source NHS GMS was added to SPATA7. Mode of inheritance for gene SPATA7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa, juvenile, autosomal recessive, 604232; Leber congenital amaurosis 3, 604232 for gene: SPATA7 |
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Structural eye disease v0.15 | SNRNP200 |
Ivone Leong Source NHS GMS was added to SNRNP200. Mode of inheritance for gene SNRNP200 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 33, 610359 for gene: SNRNP200 |
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Structural eye disease v0.15 | SLC45A2 |
Ivone Leong Source NHS GMS was added to SLC45A2. Mode of inheritance for gene SLC45A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes [Skin/hair/eye pigmentation 5, dark/light eyes], 227240; [Skin/hair/eye pigmentation 5, dark/fair skin]; [Skin/hair/eye pigmentation 5, black/nonblack hair]; Albinism, oculocutaneous, type IV, 606574 for gene: SLC45A2 |
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Structural eye disease v0.15 | SLC24A5 |
Ivone Leong Source NHS GMS was added to SLC24A5. Mode of inheritance for gene SLC24A5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ALBINISM, OCULOCUTANEOUS, TYPE VI, 113750 for gene: SLC24A5 |
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Structural eye disease v0.15 | SLC24A1 |
Ivone Leong Source NHS GMS was added to SLC24A1. Mode of inheritance for gene SLC24A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 for gene: SLC24A1 |
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Structural eye disease v0.15 | SIX3 |
Ivone Leong Source NHS GMS was added to SIX3. Mode of inheritance for gene SIX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Holoprosencephaly 2, 157170 for gene: SIX3 Publications for gene SIX3 were changed from 21976454 to 21976454; 21940735; 10369266 |
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Structural eye disease v0.15 | SEMA4A |
Ivone Leong Source NHS GMS was added to SEMA4A. Mode of inheritance for gene SEMA4A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282 for gene: SEMA4A |
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Structural eye disease v0.15 | SDCCAG8 |
Ivone Leong Source NHS GMS was added to SDCCAG8. Mode of inheritance for gene SDCCAG8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 16, 615993; Senior-Loken syndrome 7, 613615 for gene: SDCCAG8 |
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Structural eye disease v0.15 | SALL2 |
Ivone Leong Source NHS GMS was added to SALL2. Added phenotypes Coloboma, ocular, autosomal recessive, 216820 for gene: SALL2 |
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Structural eye disease v0.15 | SAG |
Ivone Leong Source NHS GMS was added to SAG. Mode of inheritance for gene SAG was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 47; Oguchi disease-1; 258100; 613758 for gene: SAG |
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Structural eye disease v0.15 | RS1 |
Ivone Leong Source NHS GMS was added to RS1. Mode of inheritance for gene RS1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Retinoschisis, 312700 for gene: RS1 |
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Structural eye disease v0.15 | RPGRIP1 |
Ivone Leong Source NHS GMS was added to RPGRIP1. Mode of inheritance for gene RPGRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy 13, 608194; Leber congenital amaurosis 6, 613826 for gene: RPGRIP1 |
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Structural eye disease v0.15 | RPGR |
Ivone Leong Source NHS GMS was added to RPGR. Mode of inheritance for gene RPGR was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Macular degeneration, X-linked atrophic, 300834; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455; Cone-rod dystrophy, X-linked, 1, 304020; Retinitis pigmentosa 3, 300029 for gene: RPGR |
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Structural eye disease v0.15 | RPE65 |
Ivone Leong Source NHS GMS was added to RPE65. Mode of inheritance for gene RPE65 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leber congenital amaurosis 2, 204100 for gene: RPE65 |
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Structural eye disease v0.15 | RP9 |
Ivone Leong Source NHS GMS was added to RP9. Mode of inheritance for gene RP9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes ?Retinitis pigmentosa 9, 180104 for gene: RP9 |
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Structural eye disease v0.15 | RP2 |
Ivone Leong Source NHS GMS was added to RP2. Mode of inheritance for gene RP2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Retinitis pigmentosa 2, 312600 for gene: RP2 Publications for gene RP2 were changed from to 21738648 |
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Structural eye disease v0.15 | RP1 |
Ivone Leong Source NHS GMS was added to RP1. Mode of inheritance for gene RP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 1, 180100 for gene: RP1 |
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Structural eye disease v0.15 | ROM1 |
Ivone Leong Source NHS GMS was added to ROM1. Mode of inheritance for gene ROM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 7, digenic, 608133 for gene: ROM1 |
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Structural eye disease v0.15 | RLBP1 |
Ivone Leong Source NHS GMS was added to RLBP1. Mode of inheritance for gene RLBP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes 136880; Newfoundland rod-cone dystrophy, Fundus albipunctatus; Bothnia retinal dystrophy; 607475; 607476 for gene: RLBP1 |
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Structural eye disease v0.15 | RIMS1 |
Ivone Leong Source NHS GMS was added to RIMS1. Mode of inheritance for gene RIMS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Cone-rod dystrophy 7, 603649 for gene: RIMS1 Publications for gene RIMS1 were changed from to 28677725 |
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Structural eye disease v0.15 | RHO |
Ivone Leong Source NHS GMS was added to RHO. Mode of inheritance for gene RHO was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 4, autosomal dominant or recessive, 613731; Fundus albipunctatus, 136880; Night blindness, congenital stationary, autosomal dominant 1, 610445 for gene: RHO |
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Structural eye disease v0.15 | RGS9BP |
Ivone Leong Source NHS GMS was added to RGS9BP. Mode of inheritance for gene RGS9BP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bradyopsia, 608415 for gene: RGS9BP |
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Structural eye disease v0.15 | RGS9 |
Ivone Leong Source NHS GMS was added to RGS9. Mode of inheritance for gene RGS9 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bradyopsia, 608415 for gene: RGS9 |
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Structural eye disease v0.15 | RGR |
Ivone Leong Source NHS GMS was added to RGR. Mode of inheritance for gene RGR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 44, 613769 for gene: RGR |
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Structural eye disease v0.15 | RDH5 |
Ivone Leong Source NHS GMS was added to RDH5. Mode of inheritance for gene RDH5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Fundus albipunctatus, 136880 for gene: RDH5 |
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Structural eye disease v0.15 | RDH12 |
Ivone Leong Source NHS GMS was added to RDH12. Mode of inheritance for gene RDH12 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leber congenital amaurosis 13, 612712 for gene: RDH12 Publications for gene RDH12 were changed from to 25148430; 22065924 |
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Structural eye disease v0.15 | RD3 |
Ivone Leong Source NHS GMS was added to RD3. Mode of inheritance for gene RD3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leber congenital amaurosis 12, 610612 for gene: RD3 |
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Structural eye disease v0.15 | RBP3 |
Ivone Leong Source NHS GMS was added to RBP3. Mode of inheritance for gene RBP3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Retinitis pigmentosa 66, 615233 for gene: RBP3 |
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Structural eye disease v0.15 | RAX2 |
Ivone Leong Source NHS GMS was added to RAX2. Mode of inheritance for gene RAX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Macular degeneration, age-related, 6, 613757; Cone-rod dystrophy 11, 610381 for gene: RAX2 |
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Structural eye disease v0.15 | PRPH2 |
Ivone Leong Source NHS GMS was added to PRPH2. Mode of inheritance for gene PRPH2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis punctata albescens, 136880; Leber congenital amaurosis 18, 608133; Choriodal dystrophy, central areolar 2, 613105; Macular dystrophy, vitelliform, 3, 608161; Macular dystrophy, patterned, 1, 169150 for gene: PRPH2 |
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Structural eye disease v0.15 | PRPF8 |
Ivone Leong Source NHS GMS was added to PRPF8. Mode of inheritance for gene PRPF8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 13, 600059 for gene: PRPF8 |
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Structural eye disease v0.15 | PRPF6 |
Ivone Leong Source NHS GMS was added to PRPF6. Mode of inheritance for gene PRPF6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 60, 613983 for gene: PRPF6 |
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Structural eye disease v0.15 | PRPF31 |
Ivone Leong Source NHS GMS was added to PRPF31. Mode of inheritance for gene PRPF31 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 11, 600138 for gene: PRPF31 |
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Structural eye disease v0.15 | PRPF3 |
Ivone Leong Source NHS GMS was added to PRPF3. Mode of inheritance for gene PRPF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 18, 601414 for gene: PRPF3 |
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Structural eye disease v0.15 | PROM1 |
Ivone Leong Source NHS GMS was added to PROM1. Mode of inheritance for gene PROM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051; Cone-rod dystrophy 12, 612657; Retinitis pigmentosa 41, 612095 for gene: PROM1 |
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Structural eye disease v0.15 | PRCD |
Ivone Leong Source NHS GMS was added to PRCD. Mode of inheritance for gene PRCD was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 36, 610599 for gene: PRCD |
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Structural eye disease v0.15 | PPT1 |
Ivone Leong Source NHS GMS was added to PPT1. Mode of inheritance for gene PPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 1, 256730 for gene: PPT1 |
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Structural eye disease v0.15 | POLH |
Ivone Leong Source NHS GMS was added to POLH. Mode of inheritance for gene POLH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750 for gene: POLH |
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Structural eye disease v0.15 | PLA2G5 |
Ivone Leong Source NHS GMS was added to PLA2G5. Mode of inheritance for gene PLA2G5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes [Fleck retina, familial benign], 228980 for gene: PLA2G5 |
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Structural eye disease v0.15 | PITX3 |
Ivone Leong Source NHS GMS was added to PITX3. Source Expert Review Green was added to PITX3. Mode of inheritance for gene PITX3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Anterior segment mesenchymal dysgenesis, 107250; Cataract 11, multiple types, 610623 for gene: PITX3 Publications for gene PITX3 were changed from to 29405783; 9620774; 20033184 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Structural eye disease v0.15 | PITPNM3 |
Ivone Leong Source NHS GMS was added to PITPNM3. Mode of inheritance for gene PITPNM3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Cone-rod dystrophy 5, 600977 for gene: PITPNM3 |
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Structural eye disease v0.15 | PHYH |
Ivone Leong Source NHS GMS was added to PHYH. Mode of inheritance for gene PHYH was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Refsum disease, 266500 for gene: PHYH |
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Structural eye disease v0.15 | PEX7 |
Ivone Leong Source NHS GMS was added to PEX7. Mode of inheritance for gene PEX7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 9B, 614879; Rhizomelic chondrodysplasia punctata, type 1, 215100 for gene: PEX7 |
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Structural eye disease v0.15 | PDZD7 |
Ivone Leong Source NHS GMS was added to PDZD7. Mode of inheritance for gene PDZD7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472; Retinal disease in Usher syndrome type IIA, modifier of, 276901 for gene: PDZD7 |
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Structural eye disease v0.15 | PDE6H |
Ivone Leong Source NHS GMS was added to PDE6H. Mode of inheritance for gene PDE6H was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Achromatopsia 6, 610024 for gene: PDE6H |
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Structural eye disease v0.15 | PDE6G |
Ivone Leong Source NHS GMS was added to PDE6G. Mode of inheritance for gene PDE6G was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 57, 613582 for gene: PDE6G |
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Structural eye disease v0.15 | PDE6C |
Ivone Leong Source NHS GMS was added to PDE6C. Mode of inheritance for gene PDE6C was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cone dystrophy 4, 613093 for gene: PDE6C |
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Structural eye disease v0.15 | PDE6B |
Ivone Leong Source NHS GMS was added to PDE6B. Mode of inheritance for gene PDE6B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa-40; 163500; Night blindness, congenital stationary, autosomal dominant 2; 613801 for gene: PDE6B |
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Structural eye disease v0.15 | PDE6A |
Ivone Leong Source NHS GMS was added to PDE6A. Mode of inheritance for gene PDE6A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 43, 613810 for gene: PDE6A |
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Structural eye disease v0.15 | PCDH15 |
Ivone Leong Source NHS GMS was added to PCDH15. Mode of inheritance for gene PCDH15 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Usher syndrome, type 1F, 602083; Usher syndrome, type 1D/F digenic, 601067; Deafness, autosomal recessive 23, 609533 for gene: PCDH15 |
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Structural eye disease v0.15 | OPTN |
Ivone Leong Source NHS GMS was added to OPTN. Mode of inheritance for gene OPTN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Glaucoma 1, open angle, E, 137760 for gene: OPTN |
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Structural eye disease v0.15 | OPA3 |
Ivone Leong Source NHS GMS was added to OPA3. Mode of inheritance for gene OPA3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Optic atrophy 3 with cataract, 165300 for gene: OPA3 |
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Structural eye disease v0.15 | OPA1 |
Ivone Leong Source NHS GMS was added to OPA1. Mode of inheritance for gene OPA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Optic atrophy 1, 165500; Glaucoma, normal tension, susceptibility to, 210000; Optic atrophy plus syndrome, 125250; Behr syndrome for gene: OPA1 |
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Structural eye disease v0.15 | OFD1 |
Ivone Leong Source NHS GMS was added to OFD1. Mode of inheritance for gene OFD1 was changed from Other - please specifiy in evaluation comments to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes ?Retinitis pigmentosa 23, 300424; Joubert syndrome 10, 300804 for gene: OFD1 Publications for gene OFD1 were changed from 22353940; 19800048 to 28173652 |
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Structural eye disease v0.15 | OCA2 |
Ivone Leong Source NHS GMS was added to OCA2. Mode of inheritance for gene OCA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Albinism, brown oculocutaneous, 203200; [Skin/hair/eye pigmentation 1, blue/nonblue eyes]; Albinism oculocutaneous, type II; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 for gene: OCA2 |
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Structural eye disease v0.15 | OAT |
Ivone Leong Source NHS GMS was added to OAT. Mode of inheritance for gene OAT was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 for gene: OAT |
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Structural eye disease v0.15 | NYX |
Ivone Leong Source NHS GMS was added to NYX. Mode of inheritance for gene NYX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Night blindness, congenital stationary (complete), 1A, X-linked, 310500 for gene: NYX |
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Structural eye disease v0.15 | NTF4 |
Ivone Leong Source NHS GMS was added to NTF4. Mode of inheritance for gene NTF4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes GLAUCOMA 1, OPEN ANGLE, O, 613100 for gene: NTF4 |
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Structural eye disease v0.15 | NRL |
Ivone Leong Source NHS GMS was added to NRL. Mode of inheritance for gene NRL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 27, 613750 for gene: NRL |
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Structural eye disease v0.15 | NR2E3 |
Ivone Leong Source NHS GMS was added to NR2E3. Mode of inheritance for gene NR2E3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Enhanced S-cone syndrome, 268100; Retinitis pigmentosa 37, 611131 for gene: NR2E3 |
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Structural eye disease v0.15 | NPHP4 |
Ivone Leong Source NHS GMS was added to NPHP4. Mode of inheritance for gene NPHP4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Senior-Loken syndrome, 606996; Nephronophthisis 4, 606966 for gene: NPHP4 |
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Structural eye disease v0.15 | NPHP3 |
Ivone Leong Source NHS GMS was added to NPHP3. Mode of inheritance for gene NPHP3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 604387; Meckel syndrome 7; Nephronophthisis 3; Renal-hepatic-pancreatic dysplasia 1; 267010; 208540 for gene: NPHP3 |
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Structural eye disease v0.15 | NPHP1 |
Ivone Leong Source NHS GMS was added to NPHP1. Added phenotypes 609583; 256100; 266900; Joubert syndrome 4; Senior-Loken syndrome-1; Nephronophthisis 1, juvenile for gene: NPHP1 |
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Structural eye disease v0.15 | NDP |
Ivone Leong Source NHS GMS was added to NDP. Source Expert Review Green was added to NDP. Mode of inheritance for gene NDP was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Norrie disease, 310600; Exudative vitreoretinopathy 2, X-linked, 305390 for gene: NDP Publications for gene NDP were changed from to 17334993; 26130484; 29321361; 29617172 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Structural eye disease v0.15 | NAA10 |
Ivone Leong Source NHS GMS was added to NAA10. Mode of inheritance for gene NAA10 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mode of pathogenicity for gene NAA10 was changed from to other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 1, 309800 for gene: NAA10 Publications for gene NAA10 were changed from 24431331, 20301694 to 30842225; 24431331 |
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Structural eye disease v0.15 | MYO7A |
Ivone Leong Source NHS GMS was added to MYO7A. Mode of inheritance for gene MYO7A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Deafness, autosomal recessive 2; Usher syndrome, type 1B, 276900; Deafness, autosomal dominant 11, 601317 for gene: MYO7A |
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Structural eye disease v0.15 | MTTP |
Ivone Leong Source NHS GMS was added to MTTP. Mode of inheritance for gene MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Abetalipoproteinemia, 200100 for gene: MTTP |
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Structural eye disease v0.15 | MPLKIP |
Ivone Leong Source NHS GMS was added to MPLKIP. Mode of inheritance for gene MPLKIP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, 234050 for gene: MPLKIP Publications for gene MPLKIP were changed from to 21959366 |
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Structural eye disease v0.15 | MKS1 |
Ivone Leong Source NHS GMS was added to MKS1. Mode of inheritance for gene MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 13, 615990; Meckel syndrome 1, 249000 for gene: MKS1 Publications for gene MKS1 were changed from to 23454480 |
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Structural eye disease v0.15 | MKKS |
Ivone Leong Source NHS GMS was added to MKKS. Mode of inheritance for gene MKKS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 6; 605231; McKusick-Kaufman syndrome; 236700 for gene: MKKS |
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Structural eye disease v0.15 | MIR204 |
Ivone Leong Source NHS GMS was added to MIR204. Added phenotypes RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722 for gene: MIR204 |
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Structural eye disease v0.15 | MFSD8 |
Ivone Leong Source NHS GMS was added to MFSD8. Mode of inheritance for gene MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, 616170; CEROID LIPOFUSCINOSIS, NEURONAL, 7, 610951 for gene: MFSD8 |
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Structural eye disease v0.15 | MFN2 |
Ivone Leong Source NHS GMS was added to MFN2. Mode of inheritance for gene MFN2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Charcot-Marie-Tooth disease, type 2A2, 609260 for gene: MFN2 |
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Structural eye disease v0.15 | MERTK |
Ivone Leong Source NHS GMS was added to MERTK. Mode of inheritance for gene MERTK was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 38, 613862 for gene: MERTK |
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Structural eye disease v0.15 | MAK |
Ivone Leong Source NHS GMS was added to MAK. Mode of inheritance for gene MAK was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 62, 614181 for gene: MAK |
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Structural eye disease v0.15 | LZTFL1 |
Ivone Leong Source NHS GMS was added to LZTFL1. Mode of inheritance for gene LZTFL1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 17, 615994 for gene: LZTFL1 |
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Structural eye disease v0.15 | LRP5 |
Ivone Leong Source NHS GMS was added to LRP5. Source Expert Review Green was added to LRP5. Mode of inheritance for gene LRP5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Osteopetrosis, autosomal dominant 1, 607634; Osteoporosis-pseudoglioma syndrome, 259770; van Buchem disease, type 2; Exudative vitreoretinopathy 4, 601813 for gene: LRP5 Publications for gene LRP5 were changed from to 29131652, 28111184, 20034086 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Structural eye disease v0.15 | LRMDA |
Ivone Leong Source NHS GMS was added to LRMDA. Mode of inheritance for gene LRMDA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ALBINISM, OCULOCUTANEOUS, TYPE VII, 615179 for gene: LRMDA |
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Structural eye disease v0.15 | LRIT3 |
Ivone Leong Source NHS GMS was added to LRIT3. Mode of inheritance for gene LRIT3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 for gene: LRIT3 |
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Structural eye disease v0.15 | LRAT |
Ivone Leong Source NHS GMS was added to LRAT. Mode of inheritance for gene LRAT was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leber congenital amaurosis 14, 613341 for gene: LRAT |
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Structural eye disease v0.15 | LCA5 |
Ivone Leong Source NHS GMS was added to LCA5. Mode of inheritance for gene LCA5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leber congenital amaurosis 5, 604537 for gene: LCA5 |
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Structural eye disease v0.15 | KLHL7 |
Ivone Leong Source NHS GMS was added to KLHL7. Mode of inheritance for gene KLHL7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 42, 612943 for gene: KLHL7 |
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Structural eye disease v0.15 | KIF7 |
Ivone Leong Source NHS GMS was added to KIF7. Added phenotypes Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990 for gene: KIF7 |
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Structural eye disease v0.15 | KCTD7 |
Ivone Leong Source NHS GMS was added to KCTD7. Mode of inheritance for gene KCTD7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, 611726 for gene: KCTD7 |
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Structural eye disease v0.15 | KCNV2 |
Ivone Leong Source NHS GMS was added to KCNV2. Mode of inheritance for gene KCNV2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinal cone dystrophy 3B, 610356 for gene: KCNV2 |
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Structural eye disease v0.15 | KCNJ13 |
Ivone Leong Source NHS GMS was added to KCNJ13. Mode of inheritance for gene KCNJ13 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Leber congenital amaurosis 16, 614186; Snowflake vitreoretinal degeneration, 193230 for gene: KCNJ13 |
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Structural eye disease v0.15 | IQCB1 |
Ivone Leong Source NHS GMS was added to IQCB1. Mode of inheritance for gene IQCB1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Senior-Loken syndrome 5: an autosomal recessive disorder with the main features of nephronophthisis (NPHP, see 256100) and Leber congenital amaurosis (LCA, see 204000) 609254 for gene: IQCB1 |
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Structural eye disease v0.15 | INVS |
Ivone Leong Source NHS GMS was added to INVS. Mode of inheritance for gene INVS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Nephronophthisis 2, infantile, 602088 for gene: INVS |
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Structural eye disease v0.15 | INPP5E |
Ivone Leong Source NHS GMS was added to INPP5E. Source Expert Review Green was added to INPP5E. Added phenotypes Joubert syndrome 1, 213300; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 for gene: INPP5E Publications for gene INPP5E were changed from 23386033; 26748598 to 30055837; 23386033; 23022135 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Structural eye disease v0.15 | IMPG2 |
Ivone Leong Source NHS GMS was added to IMPG2. Mode of inheritance for gene IMPG2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 56, 613581; Macular dystrophy, vitelliform, 5, 616152 for gene: IMPG2 |
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Structural eye disease v0.15 | IMPDH1 |
Ivone Leong Source NHS GMS was added to IMPDH1. Mode of inheritance for gene IMPDH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Leber congenital amaurosis 11, 613837; Retinitis pigmentosa 10, 180105 for gene: IMPDH1 |
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Structural eye disease v0.15 | IDH3B |
Ivone Leong Source NHS GMS was added to IDH3B. Mode of inheritance for gene IDH3B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 46, 612572 for gene: IDH3B |
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Structural eye disease v0.15 | HMGB3 |
Ivone Leong Source NHS GMS was added to HMGB3. Mode of inheritance for gene HMGB3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes ?Microphthalmia, syndromic 13, 300915 for gene: HMGB3 Publications for gene HMGB3 were changed from 4998085 to 24993872 |
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Structural eye disease v0.15 | HDAC6 |
Ivone Leong Source NHS GMS was added to HDAC6. Mode of inheritance for gene HDAC6 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mode of pathogenicity for gene HDAC6 was changed from to other - please provide details in the comments Added phenotypes CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, 300863 for gene: HDAC6 Publications for gene HDAC6 were changed from to 20181727 |
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Structural eye disease v0.15 | HARS |
Ivone Leong Source NHS GMS was added to HARS. Mode of inheritance for gene HARS was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Usher syndrome type 3B, 614504; Charcot-Marie-Tooth disease, axonal, type 2W, 616625 for gene: HARS |
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Structural eye disease v0.15 | GUCY2D |
Ivone Leong Source NHS GMS was added to GUCY2D. Mode of inheritance for gene GUCY2D was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy 6, 601777; Leber congenital amaurosis 1, 204000 for gene: GUCY2D |
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Structural eye disease v0.15 | GUCA1B |
Ivone Leong Source NHS GMS was added to GUCA1B. Mode of inheritance for gene GUCA1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 48, 613827 for gene: GUCA1B |
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Structural eye disease v0.15 | GUCA1A |
Ivone Leong Source NHS GMS was added to GUCA1A. Mode of inheritance for gene GUCA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Cone dystrophy-3, 602093 for gene: GUCA1A |
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Structural eye disease v0.15 | GTF2H5 |
Ivone Leong Source NHS GMS was added to GTF2H5. Mode of inheritance for gene GTF2H5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, 616395 for gene: GTF2H5 |
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Structural eye disease v0.15 | GRN |
Ivone Leong Source NHS GMS was added to GRN. Mode of inheritance for gene GRN was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 11, 614706 for gene: GRN |
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Structural eye disease v0.15 | GRM6 |
Ivone Leong Source NHS GMS was added to GRM6. Mode of inheritance for gene GRM6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 for gene: GRM6 |
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Structural eye disease v0.15 | GPR179 |
Ivone Leong Source NHS GMS was added to GPR179. Mode of inheritance for gene GPR179 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 for gene: GPR179 |
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Structural eye disease v0.15 | GPR143 |
Ivone Leong Source NHS GMS was added to GPR143. Mode of inheritance for gene GPR143 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I, Nettleship-Falls type, 300500 for gene: GPR143 |
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Structural eye disease v0.15 | GNAT2 |
Ivone Leong Source NHS GMS was added to GNAT2. Mode of inheritance for gene GNAT2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Achromatopsia-4,613856 for gene: GNAT2 |
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Structural eye disease v0.15 | GNAT1 |
Ivone Leong Source NHS GMS was added to GNAT1. Mode of inheritance for gene GNAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Night blindness, congenital stationary, type 1G, 616389; Night blindness, congenital stationary, autosomal dominant 3, 610444 for gene: GNAT1 |
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Structural eye disease v0.15 | GDF6 |
Ivone Leong Source NHS GMS was added to GDF6. Source Expert Review Green was added to GDF6. Mode of inheritance for gene GDF6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene GDF6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments Added phenotypes Microphthalmia, isolated 4, 613094; KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), 118100; Microphthalmia with coloboma 6, digenic (with GDF3), 613703 for gene: GDF6 Publications for gene GDF6 were changed from to 17236135, 20494911, 25457163, 24033328, 21070663 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Structural eye disease v0.15 | GDF3 |
Ivone Leong Source NHS GMS was added to GDF3. Mode of inheritance for gene GDF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene GDF3 was changed from to other - please provide details in the comments Added phenotypes Klippel-Feil Syndrome3, 613702; Microphthalmia with coloboma 6, 613703; Microphthalmia, isolated 7, 613704 for gene: GDF3 Publications for gene GDF3 were changed from to 19864492 |
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Structural eye disease v0.15 | FZD4 |
Ivone Leong Source NHS GMS was added to FZD4. Mode of inheritance for gene FZD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Exudative vitreoretinopathy 1, 133780 for gene: FZD4 Publications for gene FZD4 were changed from to 30882657; 28413837 |
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Structural eye disease v0.15 | FSCN2 |
Ivone Leong Source NHS GMS was added to FSCN2. Mode of inheritance for gene FSCN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 30, 607921 for gene: FSCN2 |
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Structural eye disease v0.15 | FLVCR1 |
Ivone Leong Source NHS GMS was added to FLVCR1. Mode of inheritance for gene FLVCR1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 for gene: FLVCR1 |
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Structural eye disease v0.15 | FAM161A |
Ivone Leong Source NHS GMS was added to FAM161A. Mode of inheritance for gene FAM161A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 28, 606068 for gene: FAM161A |
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Structural eye disease v0.15 | EYS |
Ivone Leong Source NHS GMS was added to EYS. Mode of inheritance for gene EYS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 25, 602772 for gene: EYS |
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Structural eye disease v0.15 | ERCC8 |
Ivone Leong Source NHS GMS was added to ERCC8. Mode of inheritance for gene ERCC8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cockayne syndrome, type A, 216400 for gene: ERCC8 |
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Structural eye disease v0.15 | ERCC6 |
Ivone Leong Source NHS GMS was added to ERCC6. Added phenotypes Cerebrooculofacioskeletal syndrome 1, 214150; Macular degeneration, age-related, susceptibility to 5, 613761 for gene: ERCC6 |
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Structural eye disease v0.15 | ERCC5 |
Ivone Leong Source NHS GMS was added to ERCC5. Mode of inheritance for gene ERCC5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract), 278780; Cerebrooculofacioskeletal syndrome 3, 616570 for gene: ERCC5 |
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Structural eye disease v0.15 | ERCC4 |
Ivone Leong Source NHS GMS was added to ERCC4. Mode of inheritance for gene ERCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, 278760 for gene: ERCC4 |
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Structural eye disease v0.15 | ERCC3 |
Ivone Leong Source NHS GMS was added to ERCC3. Mode of inheritance for gene ERCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, 616390 for gene: ERCC3 |
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Structural eye disease v0.15 | ERCC2 |
Ivone Leong Source NHS GMS was added to ERCC2. Mode of inheritance for gene ERCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675 for gene: ERCC2 |
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Structural eye disease v0.15 | ERCC1 |
Ivone Leong Source NHS GMS was added to ERCC1. Mode of inheritance for gene ERCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia), 610758 for gene: ERCC1 Publications for gene ERCC1 were changed from to 17273966 |
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Structural eye disease v0.15 | ELP4 |
Ivone Leong Source NHS GMS was added to ELP4. Added phenotypes ANIRIDIA 2, 617141 for gene: ELP4 Publications for gene ELP4 were changed from 24290376 to 24290376; 29217025 |
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Structural eye disease v0.15 | ELOVL4 |
Ivone Leong Source NHS GMS was added to ELOVL4. Mode of inheritance for gene ELOVL4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Stargardt disease 3, 600110 for gene: ELOVL4 |
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Structural eye disease v0.15 | EFEMP1 |
Ivone Leong Source NHS GMS was added to EFEMP1. Mode of inheritance for gene EFEMP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Doyne honeycomb degeneration of retina, 126600 for gene: EFEMP1 |
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Structural eye disease v0.15 | DHDDS |
Ivone Leong Source NHS GMS was added to DHDDS. Mode of inheritance for gene DHDDS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 59, 613861 for gene: DHDDS |
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Structural eye disease v0.15 | DDB2 |
Ivone Leong Source NHS GMS was added to DDB2. Mode of inheritance for gene DDB2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, 278740 for gene: DDB2 |
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Structural eye disease v0.15 | DDB1 |
Ivone Leong Source NHS GMS was added to DDB1. Publications for gene DDB1 were changed from to 17129780 |
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Structural eye disease v0.15 | CYP4V2 |
Ivone Leong Source NHS GMS was added to CYP4V2. Mode of inheritance for gene CYP4V2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bietti crystalline corneoretinal dystrophy, 210370 for gene: CYP4V2 |
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Structural eye disease v0.15 | CYP27A1 |
Ivone Leong Source NHS GMS was added to CYP27A1. Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes CEREBROTENDINOUS XANTHOMATOSIS, 213700 for gene: CYP27A1 |
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Structural eye disease v0.15 | CTSD |
Ivone Leong Source NHS GMS was added to CTSD. Mode of inheritance for gene CTSD was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 10, 610127 for gene: CTSD |
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Structural eye disease v0.15 | CRX |
Ivone Leong Source NHS GMS was added to CRX. Mode of inheritance for gene CRX was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Leber congenital amaurosis 7, 613829; Cone-rod retinal dystrophy-2, 120970 for gene: CRX |
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Structural eye disease v0.15 | CRB1 |
Ivone Leong Source NHS GMS was added to CRB1. Mode of inheritance for gene CRB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa-12, autosomal recessive, 600105; Pigmented paravenous chorioretinal atrophy; Leber congenital amaurosis 8, 613835 for gene: CRB1 Publications for gene CRB1 were changed from to 23077403; 21484995 |
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Structural eye disease v0.15 | COL9A2 |
Ivone Leong Source NHS GMS was added to COL9A2. Mode of inheritance for gene COL9A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes STICKLER SYNDROME, TYPE V, 614284 for gene: COL9A2 |
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Structural eye disease v0.15 | COL9A1 |
Ivone Leong Source NHS GMS was added to COL9A1. Mode of inheritance for gene COL9A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Stickler syndrome, type IV, 614134 for gene: COL9A1 |
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Structural eye disease v0.15 | COL2A1 |
Ivone Leong Source NHS GMS was added to COL2A1. Mode of inheritance for gene COL2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Epiphyseal dysplasia, multiple, with myopia and deafness; Kniest dysplasia, 156550; SED congenita; Stickler syndrome, type I, 108300; Stickler sydrome, type I, nonsyndromic ocular, 609508; Vitreoretinopathy with phalangeal epiphyseal dysplasia for gene: COL2A1 Publications for gene COL2A1 were changed from to 18541977, 17347327 |
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Structural eye disease v0.15 | COL11A2 |
Ivone Leong Source NHS GMS was added to COL11A2. Mode of inheritance for gene COL11A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Structural eye disease v0.15 | COL11A1 |
Ivone Leong Source NHS GMS was added to COL11A1. Mode of inheritance for gene COL11A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Marshall syndrome, 154780; Stickler syndrome, type II, 604841 for gene: COL11A1 |
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Structural eye disease v0.15 | CNNM4 |
Ivone Leong Source NHS GMS was added to CNNM4. Mode of inheritance for gene CNNM4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Jalili syndrome, 217080 for gene: CNNM4 Publications for gene CNNM4 were changed from to 27419834 |
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Structural eye disease v0.15 | CNGB3 |
Ivone Leong Source NHS GMS was added to CNGB3. Mode of inheritance for gene CNGB3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Achromatopsia-3, 262300; Macular degeneration, juvenile, 248200 for gene: CNGB3 |
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Structural eye disease v0.15 | CNGB1 |
Ivone Leong Source NHS GMS was added to CNGB1. Mode of inheritance for gene CNGB1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 45, 613767 for gene: CNGB1 |
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Structural eye disease v0.15 | CNGA3 |
Ivone Leong Source NHS GMS was added to CNGA3. Mode of inheritance for gene CNGA3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Achromatopsia-2, 216900 for gene: CNGA3 Publications for gene CNGA3 were changed from to 24504161 |
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Structural eye disease v0.15 | CNGA1 |
Ivone Leong Source NHS GMS was added to CNGA1. Mode of inheritance for gene CNGA1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 49, 613756 for gene: CNGA1 |
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Structural eye disease v0.15 | CLRN1 |
Ivone Leong Source NHS GMS was added to CLRN1. Mode of inheritance for gene CLRN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Usher syndrome, type 3A, 276902; Retinitis pigmentosa 61, 614180 for gene: CLRN1 |
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Structural eye disease v0.15 | CLN8 |
Ivone Leong Source NHS GMS was added to CLN8. Mode of inheritance for gene CLN8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ceroid lipofuscinosis, neuronal, 8, 600143 for gene: CLN8 |
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Structural eye disease v0.15 | CLN6 |
Ivone Leong Source NHS GMS was added to CLN6. Mode of inheritance for gene CLN6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780 for gene: CLN6 |
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Structural eye disease v0.15 | CLN5 |
Ivone Leong Source NHS GMS was added to CLN5. Mode of inheritance for gene CLN5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ceroid lipofuscinosis, neuronal, 5, 256731 for gene: CLN5 |
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Structural eye disease v0.15 | CLN3 |
Ivone Leong Source NHS GMS was added to CLN3. Mode of inheritance for gene CLN3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ceroid lipofuscinosis, neuronal, 3, 204200 for gene: CLN3 |
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Structural eye disease v0.15 | CIB2 |
Ivone Leong Source NHS GMS was added to CIB2. Mode of inheritance for gene CIB2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Usher syndrome, type IJ, 614869 for gene: CIB2 |
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Structural eye disease v0.15 | CHM |
Ivone Leong Source NHS GMS was added to CHM. Mode of inheritance for gene CHM was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Choroideremia, 303100 for gene: CHM |
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Structural eye disease v0.15 | CERKL |
Ivone Leong Source NHS GMS was added to CERKL. Mode of inheritance for gene CERKL was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 26, 608380 for gene: CERKL |
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Structural eye disease v0.15 | CEP41 |
Ivone Leong Source NHS GMS was added to CEP41. Added phenotypes Joubert syndrome 15, 614464 for gene: CEP41 |
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Structural eye disease v0.15 | CEP290 |
Ivone Leong Source NHS GMS was added to CEP290. Source Expert Review Green was added to CEP290. Added phenotypes Joubert syndrome 5, 610188; Leber congenital amaurosis 10, 611755; Meckel syndrome 4, 611134; ?Bardet-Biedl syndrome 14, 615991; Senior-Loken syndrome 6, 610189 for gene: CEP290 Publications for gene CEP290 were changed from to 30055837, 22355252 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Structural eye disease v0.15 | CDHR1 |
Ivone Leong Source NHS GMS was added to CDHR1. Mode of inheritance for gene CDHR1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy 15, 613660 for gene: CDHR1 |
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Structural eye disease v0.15 | CDH3 |
Ivone Leong Source NHS GMS was added to CDH3. Mode of inheritance for gene CDH3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 for gene: CDH3 |
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Structural eye disease v0.15 | CDH23 |
Ivone Leong Source NHS GMS was added to CDH23. Mode of inheritance for gene CDH23 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Usher syndrome, type 1D, 601067 for gene: CDH23 |
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Structural eye disease v0.15 | CACNA2D4 |
Ivone Leong Source NHS GMS was added to CACNA2D4. Mode of inheritance for gene CACNA2D4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinal cone dystrophy 4, 610478 for gene: CACNA2D4 |
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Structural eye disease v0.15 | CACNA1F |
Ivone Leong Source NHS GMS was added to CACNA1F. Mode of inheritance for gene CACNA1F was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Cone-rod dystropy, X-linked, 3, 300476; Aland Island eye disease, 300600; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 for gene: CACNA1F |
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Structural eye disease v0.15 | CABP4 |
Ivone Leong Source NHS GMS was added to CABP4. Mode of inheritance for gene CABP4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427 for gene: CABP4 |
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Structural eye disease v0.15 | CA4 |
Ivone Leong Source NHS GMS was added to CA4. Mode of inheritance for gene CA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 17, 600852 for gene: CA4 |
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Structural eye disease v0.15 | C8orf37 |
Ivone Leong Source NHS GMS was added to C8orf37. Mode of inheritance for gene C8orf37 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy 16, 614500 for gene: C8orf37 |
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Structural eye disease v0.15 | C5orf42 |
Ivone Leong Source NHS GMS was added to C5orf42. Added phenotypes Joubert syndrome 17, 614615 for gene: C5orf42 Publications for gene C5orf42 were changed from 22425360; 22693042; 25920555 to 24178751 |
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Structural eye disease v0.15 | C2orf71 |
Ivone Leong Source NHS GMS was added to C2orf71. Mode of inheritance for gene C2orf71 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 54, 613428 for gene: C2orf71 |
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Structural eye disease v0.15 | C1QTNF5 |
Ivone Leong Source NHS GMS was added to C1QTNF5. Mode of inheritance for gene C1QTNF5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinal degeneration, late-onset, autosomal dominant, 605670 for gene: C1QTNF5 |
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Structural eye disease v0.15 | BMPR1A |
Ivone Leong Source NHS GMS was added to BMPR1A. Mode of inheritance for gene BMPR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene BMPR1A were changed from to 29522511 |
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Structural eye disease v0.15 | BMP7 |
Ivone Leong Source NHS GMS was added to BMP7. Mode of pathogenicity for gene BMP7 was changed from to other - please provide details in the comments Added phenotypes Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability; None for gene: BMP7 Publications for gene BMP7 were changed from 20506283 to 20506283; 7590254 |
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Structural eye disease v0.15 | BEST1 |
Ivone Leong Source NHS GMS was added to BEST1. Source Expert Review Green was added to BEST1. Mode of inheritance for gene BEST1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa, concentric, 613194; Vitelliform Macular degeneration 2, 153700; Microcornea, rod-cone dystrophy, cataract, and posterior; Bestrophinopathy, autosomal recessive, 611809; staphyloma; 193220 for gene: BEST1 Publications for gene BEST1 were changed from to 21473666; 15452077 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Structural eye disease v0.15 | BBS9 |
Ivone Leong Source NHS GMS was added to BBS9. Mode of inheritance for gene BBS9 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome9, 615986 for gene: BBS9 |
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Structural eye disease v0.15 | BBS7 |
Ivone Leong Source NHS GMS was added to BBS7. Mode of inheritance for gene BBS7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome7, 615984 for gene: BBS7 |
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Structural eye disease v0.15 | BBS5 |
Ivone Leong Source NHS GMS was added to BBS5. Mode of inheritance for gene BBS5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome5, 615983 for gene: BBS5 |
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Structural eye disease v0.15 | BBS4 |
Ivone Leong Source NHS GMS was added to BBS4. Mode of inheritance for gene BBS4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome4, 615982 for gene: BBS4 |
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Structural eye disease v0.15 | BBS2 |
Ivone Leong Source NHS GMS was added to BBS2. Mode of inheritance for gene BBS2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 74, 616562; Bardet-Biedl syndrome2, 615981 for gene: BBS2 |
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Structural eye disease v0.15 | BBS12 |
Ivone Leong Source NHS GMS was added to BBS12. Mode of inheritance for gene BBS12 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome12, 615989 for gene: BBS12 |
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Structural eye disease v0.15 | BBS10 |
Ivone Leong Source NHS GMS was added to BBS10. Mode of inheritance for gene BBS10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome10, 615987 for gene: BBS10 |
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Structural eye disease v0.15 | BBS1 |
Ivone Leong Source NHS GMS was added to BBS1. Mode of inheritance for gene BBS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome1, 209900 for gene: BBS1 |
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Structural eye disease v0.15 | B3GLCT |
Ivone Leong Source NHS GMS was added to B3GLCT. Source Expert Review Green was added to B3GLCT. Mode of inheritance for gene B3GLCT was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peters-plus syndrome 261540 for gene: B3GLCT Publications for gene B3GLCT were changed from to 19796186; 16909395; 18798333 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Structural eye disease v0.15 | ATP13A2 |
Ivone Leong Source NHS GMS was added to ATP13A2. Mode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes KUFOR-RAKEB SYNDROME, 606693; SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, 617225 for gene: ATP13A2 |
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Structural eye disease v0.15 | ATOH7 |
Ivone Leong Source NHS GMS was added to ATOH7. Added phenotypes Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900 for gene: ATOH7 Publications for gene ATOH7 were changed from 1838; 8779 to 11493566; 22068589; 1838; 8779 |
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Structural eye disease v0.15 | ASB10 |
Ivone Leong Source NHS GMS was added to ASB10. Mode of inheritance for gene ASB10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes GLAUCOMA 1, OPEN ANGLE, F, 603383 for gene: ASB10 |
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Structural eye disease v0.15 | ARL6 |
Ivone Leong Source NHS GMS was added to ARL6. Mode of inheritance for gene ARL6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 3, 600151; {Bardet-Biedl syndrome 1, modifier of} 209900; Retinitis pigmentosa 55, 613575 for gene: ARL6 Publications for gene ARL6 were changed from to 19097054 |
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Structural eye disease v0.15 | ARL13B |
Ivone Leong Source NHS GMS was added to ARL13B. Added phenotypes Joubert syndrome 8 612291 for gene: ARL13B Publications for gene ARL13B were changed from 18674751; 25138100 to 25138100; 18674751 |
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Structural eye disease v0.15 | ALMS1 |
Ivone Leong Source NHS GMS was added to ALMS1. Mode of inheritance for gene ALMS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Alstrom syndrome 203800 for gene: ALMS1 |
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Structural eye disease v0.15 | AIPL1 |
Ivone Leong Source NHS GMS was added to AIPL1. Mode of inheritance for gene AIPL1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy; Retinitis pigmentosa, juvenile; Leber congenital amaurosis 4, 604393 for gene: AIPL1 Publications for gene AIPL1 were changed from to 25148430 |
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Structural eye disease v0.15 | AHI1 |
Ivone Leong Source NHS GMS was added to AHI1. Added phenotypes Joubert syndrome 3, 608629 for gene: AHI1 |
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Structural eye disease v0.15 | ADGRV1 |
Ivone Leong Source NHS GMS was added to ADGRV1. Mode of inheritance for gene ADGRV1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Usher syndrome, type 2C, 605472 for gene: ADGRV1 |
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Structural eye disease v0.15 | ADAM9 |
Ivone Leong Source NHS GMS was added to ADAM9. Mode of inheritance for gene ADAM9 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy 9, 612775 for gene: ADAM9 Publications for gene ADAM9 were changed from to 25091951 |
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Structural eye disease v0.15 | ABHD12 |
Ivone Leong Source NHS GMS was added to ABHD12. Mode of inheritance for gene ABHD12 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674 for gene: ABHD12 |
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Structural eye disease v0.15 | ABCB6 |
Ivone Leong Source NHS GMS was added to ABCB6. Mode of inheritance for gene ABCB6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene ABCB6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments Added phenotypes Microphthalmia, isolated, with coloboma 7 614497 for gene: ABCB6 Publications for gene ABCB6 were changed from to 22226084 |
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Structural eye disease v0.15 | ABCA4 |
Ivone Leong Source NHS GMS was added to ABCA4. Mode of inheritance for gene ABCA4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy 3, 604116; Retinal dystrophy, early-onset severe; Fundus flavimaculatus; {Macular degeneration, age-related, 2}, 153800; Retinitis pigmentosa 19, 601718; Stargardt disease 1, 248200 for gene: ABCA4 |
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Structural eye disease v0.15 | TUBGCP4 |
Ivone Leong Source NHS GMS was added to TUBGCP4. Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4 |
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Structural eye disease v0.15 | SBF2 |
Ivone Leong Source NHS GMS was added to SBF2. Added phenotypes Charcot-Marie-Tooth disease, type 4B2 604563; CMT with early onset glaucoma for gene: SBF2 Publications for gene SBF2 were changed from to 15304601; 12687498 |
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Structural eye disease v0.15 | RBP4 |
Ivone Leong Source NHS GMS was added to RBP4. Added phenotypes Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 for gene: RBP4 Publications for gene RBP4 were changed from 9888420 to 25910211; 9888420; 27892788 |
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Structural eye disease v0.15 | PIGL |
Ivone Leong Source NHS GMS was added to PIGL. Source Expert Review Green was added to PIGL. Added phenotypes CHIME syndrome, 280000; Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome for gene: PIGL Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v0.15 | MAF |
Ivone Leong Source NHS GMS was added to MAF. Source Expert Review Green was added to MAF. Mode of pathogenicity for gene MAF was changed from to Other - please provide details in the comments Added phenotypes Cataract 21, multiple types 610202 for gene: MAF Publications for gene MAF were changed from 11772997 to 12642301; 17982426 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v0.15 | LRP2 |
Ivone Leong Source NHS GMS was added to LRP2. Source Expert Review Green was added to LRP2. Added phenotypes Donnai-Barrow syndrome, 222448 for gene: LRP2 Publications for gene LRP2 were changed from 17632512, 8266995 to 8266995; 18553518; 17632512 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v0.15 | IGBP1 |
Ivone Leong Source NHS GMS was added to IGBP1. Mode of inheritance for gene IGBP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472 for gene: IGBP1 Publications for gene IGBP1 were changed from to 14556245 |
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Structural eye disease v0.15 | HMX1 |
Ivone Leong Source NHS GMS was added to HMX1. Source Expert Review Green was added to HMX1. Mode of inheritance for gene HMX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Oculoauricular syndrome 612109 for gene: HMX1 Publications for gene HMX1 were changed from 18423520; 21417677; 25574057 to 21417677; 29140751; 25574057; 18423520 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v0.15 | GJA1 |
Ivone Leong Source NHS GMS was added to GJA1. Mode of pathogenicity for gene GJA1 was changed from to Other - please provide details in the comments Added phenotypes open angle glaucoma (OAG) and microcornea; Oculodentodigital dysplasia for gene: GJA1 Publications for gene GJA1 were changed from 21273537; 25976645 to 15637728; 25976645; 21273537; 30628995; 24508941 |
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Structural eye disease v0.15 | DDX58 |
Ivone Leong Source NHS GMS was added to DDX58. Source Expert Review Green was added to DDX58. Added phenotypes Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities. for gene: DDX58 Publications for gene DDX58 were changed from 3588; 25620203; 2509 to 25620203; 30574673 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Structural eye disease v0.15 | YAP1 |
Ivone Leong Source NHS GMS was added to YAP1. Mode of pathogenicity for gene YAP1 was changed from to Other - please provide details in the comments Added phenotypes Coloboma, ocular, 120433; Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433; isolated ocular coloboma for gene: YAP1 Publications for gene YAP1 were changed from 24462371; 27267789; 26209646 to 24462371; 27267789; 28801591 |
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Structural eye disease v0.15 | VSX2 |
Ivone Leong Source NHS GMS was added to VSX2. Added phenotypes Microphthalmia with coloboma 3, 610092 for gene: VSX2 Publications for gene VSX2 were changed from 10932181, 24859618 to 20414678; 10932181 |
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Structural eye disease v0.15 | TMEM98 |
Ivone Leong Source NHS GMS was added to TMEM98. Mode of pathogenicity for gene TMEM98 was changed from to Other - please provide details in the comments Added phenotypes NNO4 Nanophthalmos 4, 615972 for gene: TMEM98 Publications for gene TMEM98 were changed from 26392740; 24852644 to 24852644; 26392740 |
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Structural eye disease v0.15 | TBC1D20 |
Ivone Leong Source NHS GMS was added to TBC1D20. Added phenotypes Warburg micro syndrome 4, 615663 for gene: TBC1D20 Publications for gene TBC1D20 were changed from to 24239381 |
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Structural eye disease v0.15 | STRA6 |
Ivone Leong Source NHS GMS was added to STRA6. Added phenotypes Microphthalmia, syndromic 9, 601186; Microphthalmia, isolated, with coloboma 8, 601186; Syndromic Microphthalmia, Recessive for gene: STRA6 Publications for gene STRA6 were changed from 17273977, 24859618 to 24859618; 17273977 |
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Structural eye disease v0.15 | SOX2 |
Ivone Leong Source NHS GMS was added to SOX2. Mode of pathogenicity for gene SOX2 was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 3 206900 for gene: SOX2 Publications for gene SOX2 were changed from 12612584, 24859618 to 12612584; 24859618 |
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Structural eye disease v0.15 | SMOC1 |
Ivone Leong Source NHS GMS was added to SMOC1. Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1 Publications for gene SMOC1 were changed from to 30445150; 21194678; 21194680 |
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Structural eye disease v0.15 | SMO |
Ivone Leong Source NHS GMS was added to SMO. Mode of pathogenicity for gene SMO was changed from to Other - please provide details in the comments Added phenotypes Curry-Jones syndrome, somatic mosaic 601707 for gene: SMO |
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Structural eye disease v0.15 | SIX6 |
Ivone Leong Source NHS GMS was added to SIX6. Mode of inheritance for gene SIX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown - Change Mode of pathogenicity for gene SIX6 was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia with cataract 2, 212550; Anophthalmia/Microphthalmia; Optic disc anomalies with retinal and/or macular dystrophy, 212550 for gene: SIX6 Publications for gene SIX6 were changed from 23167593, 24702266 to 15266624; 29450879; 23167593; 24702266 |
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Structural eye disease v0.15 | SHH |
Ivone Leong Source NHS GMS was added to SHH. Added phenotypes Holoprosencephaly-3, 142945; Schizencephaly, 269160; Single median maxillary central incisor, 147250; Microphthalmia with coloboma 5, 611638 for gene: SHH Publications for gene SHH were changed from to 20425842; 12503095 |
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Structural eye disease v0.15 | SALL4 |
Ivone Leong Source NHS GMS was added to SALL4. Added phenotypes Duane-radial ray syndrome, 607323 for gene: SALL4 Publications for gene SALL4 were changed from 12843316, 6426304 to 12843316; 6426304 |
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Structural eye disease v0.15 | RPGRIP1L |
Ivone Leong Source NHS GMS was added to RPGRIP1L. Added phenotypes COACH syndrome, 216360 for gene: RPGRIP1L |
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Structural eye disease v0.15 | RAX |
Ivone Leong Source NHS GMS was added to RAX. Added phenotypes Anophthalmia/Microphthalmia for gene: RAX Publications for gene RAX were changed from to 24033328; 14662654; 18783408 |
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Structural eye disease v0.15 | RARB |
Ivone Leong Source NHS GMS was added to RARB. Mode of pathogenicity for gene RARB was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 12, 615524 for gene: RARB |
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Structural eye disease v0.15 | RAB3GAP2 |
Ivone Leong Source NHS GMS was added to RAB3GAP2. Added phenotypes Martsolf syndrome, 212720; Warburg micro syndrome 2, 614225; Warburg Micro Syndrome for gene: RAB3GAP2 Publications for gene RAB3GAP2 were changed from to 23420520 |
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Structural eye disease v0.15 | RAB3GAP1 |
Ivone Leong Source NHS GMS was added to RAB3GAP1. Added phenotypes Warburg micro syndrome 1, 600118; Warburg Micro Syndrome for gene: RAB3GAP1 Publications for gene RAB3GAP1 were changed from to 21473985 |
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Structural eye disease v0.15 | RAB18 |
Ivone Leong Source NHS GMS was added to RAB18. Added phenotypes Warburg Micro Syndrome; Warburg micro syndrome 3, 614222 for gene: RAB18 Publications for gene RAB18 were changed from to 21473985 |
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Structural eye disease v0.15 | PUF60 |
Ivone Leong Source NHS GMS was added to PUF60. Mode of pathogenicity for gene PUF60 was changed from to Other - please provide details in the comments Added phenotypes Verheij syndrome, 615583; PUF60 syndrome; Chromosome 8q24.3 deletion syndrome; VRJS; ocular abnormalities for gene: PUF60 Publications for gene PUF60 were changed from 19464398; 24140112; 27804958; 28327570 to 27804958; 24140112; 28327570; 19464398 |
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Structural eye disease v0.15 | PRSS56 |
Ivone Leong Source NHS GMS was added to PRSS56. Added phenotypes Microphthalmia, isolated 6, 613517 for gene: PRSS56 Publications for gene PRSS56 were changed from to 29450879 |
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Structural eye disease v0.15 | PORCN |
Ivone Leong Source NHS GMS was added to PORCN. Added phenotypes Focal dermal hypoplasia 305600 for gene: PORCN Publications for gene PORCN were changed from 17546030, 24859618 to 24859618; 17546030 |
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Structural eye disease v0.15 | PITX2 |
Ivone Leong Source NHS GMS was added to PITX2. Mode of pathogenicity for gene PITX2 was changed from to Other - please provide details in the comments Added phenotypes Axenfeld-Rieger syndrome, type 1 180500; Anterior segment dysgenesis 4 137600 for gene: PITX2 Publications for gene PITX2 were changed from 9685346; 9618168; 10051017; 8944018; 18723525; 11487566 to 9685346; 18723525; 11487566; 9618168; 10051017; 8944018 |
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Structural eye disease v0.15 | PAX6 |
Ivone Leong Source NHS GMS was added to PAX6. Mode of pathogenicity for gene PAX6 was changed from to Other - please provide details in the comments Added phenotypes Coloboma of optic nerve, 120430; Peters anomaly, 604229; Coloboma, ocular, 120200; Aniridia, 106210; Optic nerve hypoplasia, 165550; Aniridia 106210; Foveal hypoplasia 1, 136520; ?Morning glory disc anomaly, 120430; Keratitis, 148190; Anophthalmia; Cataract with late-onset corneal dystrohpy, 106210; Gillespie syndrome, 206700 for gene: PAX6 Publications for gene PAX6 were changed from 12552561; 11826019; 11553050; 17406642; 7666404; 17595013; 8111379; 7550230; 7951315; 9931324; 1302030; 19876904; 17148041 to 17406642; 11826019; 1302030; 19876904; 17148041; 8111379; 9931324; 7666404; 17595013; 12552561; 7951315; 11553050; 7550230 |
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Structural eye disease v0.15 | PAX2 |
Ivone Leong Source NHS GMS was added to PAX2. Mode of pathogenicity for gene PAX2 was changed from to Other - please provide details in the comments Added phenotypes Papillorenal syndrome 120330 for gene: PAX2 Publications for gene PAX2 were changed from 8589702; 22213154; 10533062 to 10533062; 8589702; 22213154 |
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Structural eye disease v0.15 | OTX2 |
Ivone Leong Source NHS GMS was added to OTX2. Mode of pathogenicity for gene OTX2 was changed from to Other - please provide details in the comments Added phenotypes severe, bilateral cases; OTX2-Related Syndromic Microphthalmia; Microphthalmia, syndromic 5, 610125 for gene: OTX2 Publications for gene OTX2 were changed from 15846561, 18781617,24859618 to 15846561; 24859618; 18781617 |
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Structural eye disease v0.15 | MYOC |
Ivone Leong Source NHS GMS was added to MYOC. Added phenotypes Glaucoma 1A, primary open angle, 137750 for gene: MYOC Publications for gene MYOC were changed from 9535666; 12522550; 9345106; 9328473; 9005853; 9697688; 10330365 to 9697688; 9005853; 9328473; 12522550; 10330365; 9535666; 9345106 |
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Structural eye disease v0.15 | MFRP |
Ivone Leong Source NHS GMS was added to MFRP. Added phenotypes Isolated Microphthalmia; Microphthalmia, isolated 5, 611040 for gene: MFRP Publications for gene MFRP were changed from to 29450879 |
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Structural eye disease v0.15 | MAB21L2 |
Ivone Leong Source NHS GMS was added to MAB21L2. Mode of pathogenicity for gene MAB21L2 was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 14, 615877 for gene: MAB21L2 |
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Structural eye disease v0.15 | LTBP2 |
Ivone Leong Source NHS GMS was added to LTBP2. Added phenotypes Glaucoma 3, primary congenital, D 613086; Primary Congenital Glaucoma for gene: LTBP2 |
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Structural eye disease v0.15 | HCCS |
Ivone Leong Source NHS GMS was added to HCCS. Added phenotypes Microphthalmia, syndromic 7, 309801; Linear skin defects with multiple congenital anomalies 1, 309801 for gene: HCCS Publications for gene HCCS were changed from 17033964, 24859618 to 24859618; 17033964 |
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Structural eye disease v0.15 | GRIP1 |
Ivone Leong Source NHS GMS was added to GRIP1. Added phenotypes FRASER SYNDROME 3 617667 for gene: GRIP1 Publications for gene GRIP1 were changed from to 22510445 |
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Structural eye disease v0.15 | FREM2 |
Ivone Leong Source NHS GMS was added to FREM2. Added phenotypes FRASER SYNDROME 2 617666 for gene: FREM2 Publications for gene FREM2 were changed from to 15838507 |
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Structural eye disease v0.15 | FREM1 |
Ivone Leong Source NHS GMS was added to FREM1. Added phenotypes MANITOBA OCULOTRICHOANAL SYNDROME 248450 for gene: FREM1 Publications for gene FREM1 were changed from to 21507892 |
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Structural eye disease v0.15 | FRAS1 |
Ivone Leong Source NHS GMS was added to FRAS1. Added phenotypes FRASER SYNDROME 1 219000 for gene: FRAS1 Publications for gene FRAS1 were changed from to 12766769 |
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Structural eye disease v0.15 | FOXE3 |
Ivone Leong Source NHS GMS was added to FOXE3. Mode of pathogenicity for gene FOXE3 was changed from to Other - please provide details in the comments Added phenotypes Anterior segment mesenchymal dysgenesis 107250; Anterior segment dysgenesis 2, multiple subtypes 610256 for gene: FOXE3 Publications for gene FOXE3 were changed from 11159941; 21150893; 27218149; 16826526; 20361012; 24859618, 19708017 to 16826526; 24859618, 19708017; 20361012; 11159941; 27218149; 21150893 |
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Structural eye disease v0.15 | FOXD3 |
Ivone Leong Source NHS GMS was added to FOXD3. Mode of pathogenicity for gene FOXD3 was changed from to Other - please provide details in the comments Added phenotypes Anterior segment dysgenesis; Peters anomaly; aniridia for gene: FOXD3 |
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Structural eye disease v0.15 | FOXC1 |
Ivone Leong Source NHS GMS was added to FOXC1. Mode of pathogenicity for gene FOXC1 was changed from to Other - please provide details in the comments Added phenotypes Axenfeld-Rieger syndrome, type 3 602482; Anterior segment dysgenesis 3, multiple subtypes 601631 for gene: FOXC1 Publications for gene FOXC1 were changed from 9620769; 10713890; 12036988; 17210863; 12614756; 11007653 to 12036988; 17210863; 9620769; 10713890; 11007653; 12614756 |
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Structural eye disease v0.15 | CYP1B1 |
Ivone Leong Source NHS GMS was added to CYP1B1. Added phenotypes Peters anomaly, 604229; Glaucoma 3, Primary Congenital, A, GLC3A, 231300; primary congenital glaucoma; Primary Congenital Glaucoma; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset for gene: CYP1B1 Publications for gene CYP1B1 were changed from 9463332; 9097971; 9497261; 12372064 to 12372064; 9463332; 9097971; 9497261 |
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Structural eye disease v0.15 | COL4A1 |
Ivone Leong Source NHS GMS was added to COL4A1. Mode of pathogenicity for gene COL4A1 was changed from to Other - please provide details in the comments Added phenotypes BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 175780 for gene: COL4A1 Publications for gene COL4A1 were changed from to 30181649; 24628545 |
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Structural eye disease v0.15 | CLDN19 |
Ivone Leong Source NHS GMS was added to CLDN19. Added phenotypes Hypomagnesemia 5, renal, with ocular involvement, 248190 for gene: CLDN19 Publications for gene CLDN19 were changed from 17033971, 500385 to 17033971; 500385 |
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Structural eye disease v0.15 | CHD7 |
Ivone Leong Source NHS GMS was added to CHD7. Mode of pathogenicity for gene CHD7 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other - please provide details in the comments Added phenotypes CHARGE syndrome, 214800 for gene: CHD7 |
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Structural eye disease v0.15 | CC2D2A |
Ivone Leong Source NHS GMS was added to CC2D2A. Added phenotypes COACH syndrome, 216360 for gene: CC2D2A |
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Structural eye disease v0.15 | C12orf57 |
Ivone Leong Source NHS GMS was added to C12orf57. Added phenotypes Temtamy syndrome, 218340 for gene: C12orf57 Publications for gene C12orf57 were changed from 23453665, 24859618 to 23453665 24859618 |
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Structural eye disease v0.15 | BMP4 |
Ivone Leong Source NHS GMS was added to BMP4. Added phenotypes Orofacial cleft 11, 600625; Microphthalmia, syndromic 6, 607932; BMP4-Related Syndromic Microphthalmia for gene: BMP4 Publications for gene BMP4 were changed from 18252212, 2427285 to 18252212; 2427285 |
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Structural eye disease v0.15 | BCOR |
Ivone Leong Source NHS GMS was added to BCOR. Mode of pathogenicity for gene BCOR was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 2, 300166 for gene: BCOR Publications for gene BCOR were changed from to 29974297; 15004558; 17517692 |
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Structural eye disease v0.15 | ALDH1A3 |
Ivone Leong Source NHS GMS was added to ALDH1A3. Added phenotypes Microphthalmia, isolated 8 615113 for gene: ALDH1A3 Publications for gene ALDH1A3 were changed from 24859610; 23591992 to 23591992; 24859610 |
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Structural eye disease v0.15 | ADAMTS17 |
Ivone Leong Source NHS GMS was added to ADAMTS17. Added phenotypes Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR) for gene: ADAMTS17 Publications for gene ADAMTS17 were changed from 6506; 19836009; 2268 to 19836009 |
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Structural eye disease v0.15 | ADAMTS10 |
Ivone Leong Source NHS GMS was added to ADAMTS10. Added phenotypes Weill-Marchesani syndrome 1, recessive for gene: ADAMTS10 |
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Structural eye disease v0.15 | ACTG1 |
Ivone Leong Source NHS GMS was added to ACTG1. Mode of pathogenicity for gene ACTG1 was changed from to Other - please provide details in the comments Added phenotypes Baraitser-Winter syndrome 2, 614583 for gene: ACTG1 |
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Structural eye disease v0.15 | ACTB |
Ivone Leong Source NHS GMS was added to ACTB. Mode of pathogenicity for gene ACTB was changed from to Other - please provide details in the comments Added phenotypes Baraitser-Winter syndrome 1, 243310 for gene: ACTB |
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Structural eye disease v0.13 | FAT1 |
Ivone Leong gene: FAT1 was added gene: FAT1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT1 were set to 12724416; 30862798 |
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Structural eye disease v0.13 | SMAD4 |
Ivone Leong gene: SMAD4 was added gene: SMAD4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD4 were set to 11977156; 20735985 Phenotypes for gene: SMAD4 were set to Myhre syndrome, 139210 |
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Structural eye disease v0.13 | PRR12 |
Ivone Leong gene: PRR12 was added gene: PRR12 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRR12 were set to 29556724 |
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Structural eye disease v0.13 | POMT2 |
Ivone Leong gene: POMT2 was added gene: POMT2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT2 were set to 28815891; 15894594 Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 |
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Structural eye disease v0.13 | POMT1 |
Ivone Leong gene: POMT1 was added gene: POMT1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT1 were set to 15037715; 12369018 Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 |
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Structural eye disease v0.13 | OLFM2 |
Ivone Leong gene: OLFM2 was added gene: OLFM2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: OLFM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OLFM2 were set to 27844144 |
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Structural eye disease v0.13 | MITF |
Ivone Leong gene: MITF was added gene: MITF was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MITF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MITF were set to 27889061 Phenotypes for gene: MITF were set to COMMAD syndrome, 617306 |
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Structural eye disease v0.13 | KIAA1109 |
Ivone Leong gene: KIAA1109 was added gene: KIAA1109 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1109 were set to 617822; 29290337 Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome |
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Structural eye disease v0.13 | ISPD |
Ivone Leong gene: ISPD was added gene: ISPD was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISPD were set to 22522421 Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 |
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Structural eye disease v0.13 | IPO13 |
Ivone Leong gene: IPO13 was added gene: IPO13 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: IPO13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IPO13 were set to 29700284 |
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Structural eye disease v0.13 | GLI2 |
Ivone Leong gene: GLI2 was added gene: GLI2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLI2 were set to 17096318; 21204792 Phenotypes for gene: GLI2 were set to Holoprosencephaly 9, 610829 |
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Structural eye disease v0.13 | FKRP |
Ivone Leong gene: FKRP was added gene: FKRP was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKRP were set to 20675713; 19955119; 20236121; 15121789 Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 |
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Structural eye disease v0.13 | EFTUD2 |
Ivone Leong gene: EFTUD2 was added gene: EFTUD2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: EFTUD2 was set to mONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EFTUD2 were set to 26118977 Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type, 610536 |
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Structural eye disease v0.13 | CPAMD8 |
Ivone Leong gene: CPAMD8 was added gene: CPAMD8 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPAMD8 were set to 27839872 |
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Structural eye disease v0.13 | ZIC2 |
Ivone Leong gene: ZIC2 was added gene: ZIC2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZIC2 were set to 21976454 Phenotypes for gene: ZIC2 were set to Holoprosencephaly 5, 609637 |
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Structural eye disease v0.13 | ZEB2 |
Ivone Leong gene: ZEB2 was added gene: ZEB2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZEB2 were set to 16053902 Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia), 235730 |
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Structural eye disease v0.13 | ZEB1 |
Ivone Leong gene: ZEB1 was added gene: ZEB1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: ZEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZEB1 were set to Corneal dystrophy, Fuchs endothelial, 6, 613270; Corneal dystrophy, posterior polymorphous, 3, 609141 |
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Structural eye disease v0.13 | WRN |
Ivone Leong gene: WRN was added gene: WRN was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WRN were set to Werner syndrome, 277700 |
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Structural eye disease v0.13 | VSX1 |
Ivone Leong gene: VSX1 was added gene: VSX1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VSX1 were set to 15051220 Phenotypes for gene: VSX1 were set to Keratoconus 1, 148300; Corneal dystrophy, posterior polymorphous, 1, 122000; Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 |
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Structural eye disease v0.13 | VIM |
Ivone Leong gene: VIM was added gene: VIM was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: VIM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VIM were set to Cataract 30, pulverulent, 116300 |
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Structural eye disease v0.13 | UBIAD1 |
Ivone Leong gene: UBIAD1 was added gene: UBIAD1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: UBIAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: UBIAD1 were set to Corneal dystrophy, Schnyder type, 121800 |
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Structural eye disease v0.13 | TMX3 |
Ivone Leong gene: TMX3 was added gene: TMX3 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TMX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMX3 were set to 20485507 Phenotypes for gene: TMX3 were set to Microphthalmia, coloboma, micrognathia, diaphragmatic hernia; None |
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Structural eye disease v0.13 | TGFBI |
Ivone Leong gene: TGFBI was added gene: TGFBI was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: TGFBI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFBI were set to 607541; Corneal dystrophy, lattice type IIIA; 608470; Corneal dystrophy, lattice type I; 122200; Corneal dystrophy, Reis-Bucklers type; 121900; Corneal dystrophy, Groenouw type I; Corneal dystrophy, epithelial basement membrane; 608471; Corneal dystrophy, Avellino type; 121820; Corneal dystrophy, Thiel-Behnke type; 602082 |
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Structural eye disease v0.13 | TDRD7 |
Ivone Leong gene: TDRD7 was added gene: TDRD7 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: TDRD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TDRD7 were set to Cataract 36, 613887 |
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Structural eye disease v0.13 | TCOF1 |
Ivone Leong gene: TCOF1 was added gene: TCOF1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCOF1 were set to 10888597; 8741923 Phenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1 (eyelid coloboma), 154500 |
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Structural eye disease v0.13 | TBX22 |
Ivone Leong gene: TBX22 was added gene: TBX22 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TBX22 were set to 22784330 Phenotypes for gene: TBX22 were set to ?Abruzzo-Erickson syndrome, 302905 |
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Structural eye disease v0.13 | TBC1D32 |
Ivone Leong gene: TBC1D32 was added gene: TBC1D32 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to 24285566 Phenotypes for gene: TBC1D32 were set to Orofaciodigital syndrome 9, 258865 |
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Structural eye disease v0.13 | TACSTD2 |
Ivone Leong gene: TACSTD2 was added gene: TACSTD2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: TACSTD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TACSTD2 were set to Corneal dystrophy, gelatinous drop-like, 204870 |
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Structural eye disease v0.13 | SRD5A3 |
Ivone Leong gene: SRD5A3 was added gene: SRD5A3 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 20637498; 20700148; 26219881 Phenotypes for gene: SRD5A3 were set to Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713 |
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Structural eye disease v0.13 | SMCHD1 |
Ivone Leong gene: SMCHD1 was added gene: SMCHD1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMCHD1 were set to 28067911; 28067909 Phenotypes for gene: SMCHD1 were set to ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457 |
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Structural eye disease v0.13 | SLC4A4 |
Ivone Leong gene: SLC4A4 was added gene: SLC4A4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A4 were set to 10545938; 11274232 Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, 604278 |
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Structural eye disease v0.13 | SLC4A11 |
Ivone Leong gene: SLC4A11 was added gene: SLC4A11 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A11 were set to Corneal endothelial dystrophy and perceptive deafness, 217400; Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy 2, autosomal recessive, 217700 |
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Structural eye disease v0.13 | SLC38A8 |
Ivone Leong gene: SLC38A8 was added gene: SLC38A8 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 |
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Structural eye disease v0.13 | SLC33A1 |
Ivone Leong gene: SLC33A1 was added gene: SLC33A1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, 614482 |
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Structural eye disease v0.13 | SLC2A1 |
Ivone Leong gene: SLC2A1 was added gene: SLC2A1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC2A1 were set to STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, 608885 |
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Structural eye disease v0.13 | SLC16A12 |
Ivone Leong gene: SLC16A12 was added gene: SLC16A12 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC16A12 were set to Cataract, juvenile, with microcornea and glucosuria, 612018 |
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Structural eye disease v0.13 | SIL1 |
Ivone Leong gene: SIL1 was added gene: SIL1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800 |
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Structural eye disease v0.13 | SH3PXD2B |
Ivone Leong gene: SH3PXD2B was added gene: SH3PXD2B was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SH3PXD2B were set to 29100834; 20137777 Phenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome, 249420 |
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Structural eye disease v0.13 | SEMA3E |
Ivone Leong gene: SEMA3E was added gene: SEMA3E was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: SEMA3E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SEMA3E were set to CHARGE, 214800 |
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Structural eye disease v0.13 | SEC23A |
Ivone Leong gene: SEC23A was added gene: SEC23A was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, 607812 |
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Structural eye disease v0.13 | SCLT1 |
Ivone Leong gene: SCLT1 was added gene: SCLT1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCLT1 were set to 29450879; 24285566 Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM); None |
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Structural eye disease v0.13 | SC5D |
Ivone Leong gene: SC5D was added gene: SC5D was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SC5D were set to LATHOSTEROLOSIS, 607330 |
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Structural eye disease v0.13 | SALL1 |
Ivone Leong gene: SALL1 was added gene: SALL1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SALL1 were set to 16088922; 17221874; 9973281 Phenotypes for gene: SALL1 were set to Townes-Brocks branchiootorenal-like syndrome, 107480 |
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Structural eye disease v0.13 | PXDN |
Ivone Leong gene: PXDN was added gene: PXDN was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PXDN were set to 29450879; 21907015; 24939590 Phenotypes for gene: PXDN were set to Corneal opacification and other ocular anomalies, 269400 |
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Structural eye disease v0.13 | PTCH1 |
Ivone Leong gene: PTCH1 was added gene: PTCH1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTCH1 were set to 17001668; 16024850 Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7 (can include microphthalmia), 610828 |
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Structural eye disease v0.13 | PRDM5 |
Ivone Leong gene: PRDM5 was added gene: PRDM5 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, 614170 |
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Structural eye disease v0.13 | PQBP1 |
Ivone Leong gene: PQBP1 was added gene: PQBP1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PQBP1 were set to 17033686 Phenotypes for gene: PQBP1 were set to Renpenning syndrome (can include microphthalmia/coloboma), 309500 |
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Structural eye disease v0.13 | POLR1D |
Ivone Leong gene: POLR1D was added gene: POLR1D was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: POLR1D were set to Treacher-Collins Syndrome 2, 613717 |
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Structural eye disease v0.13 | POLR1C |
Ivone Leong gene: POLR1C was added gene: POLR1C was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR1C were set to Treacher-Collins Syndrome, 248390 |
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Structural eye disease v0.13 | PIKFYVE |
Ivone Leong gene: PIKFYVE was added gene: PIKFYVE was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PIKFYVE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIKFYVE were set to Corneal fleck dystrophy, 121850 |
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Structural eye disease v0.13 | PEX6 |
Ivone Leong gene: PEX6 was added gene: PEX6 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4B, 614863 |
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Structural eye disease v0.13 | PEX5 |
Ivone Leong gene: PEX5 was added gene: PEX5 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2B, 202370 |
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Structural eye disease v0.13 | PEX3 |
Ivone Leong gene: PEX3 was added gene: PEX3 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger), 603164 |
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Structural eye disease v0.13 | PEX26 |
Ivone Leong gene: PEX26 was added gene: PEX26 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7B, 614873 |
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Structural eye disease v0.13 | PEX2 |
Ivone Leong gene: PEX2 was added gene: PEX2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), 614866; Peroxisome biogenesis disorder 5B, 614867 |
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Structural eye disease v0.13 | PEX19 |
Ivone Leong gene: PEX19 was added gene: PEX19 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger), 614886 |
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Structural eye disease v0.13 | PEX16 |
Ivone Leong gene: PEX16 was added gene: PEX16 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8B, 614877 |
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Structural eye disease v0.13 | PEX14 |
Ivone Leong gene: PEX14 was added gene: PEX14 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger), 614887 |
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Structural eye disease v0.13 | PEX13 |
Ivone Leong gene: PEX13 was added gene: PEX13 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11B, 614885 |
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Structural eye disease v0.13 | PEX12 |
Ivone Leong gene: PEX12 was added gene: PEX12 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3B, 266510 |
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Structural eye disease v0.13 | PEX11B |
Ivone Leong gene: PEX11B was added gene: PEX11B was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B, 614920 |
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Structural eye disease v0.13 | PEX10 |
Ivone Leong gene: PEX10 was added gene: PEX10 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6B, 614871 |
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Structural eye disease v0.13 | PDE6D |
Ivone Leong gene: PDE6D was added gene: PDE6D was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE6D were set to 24166846 Phenotypes for gene: PDE6D were set to ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665 |
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Structural eye disease v0.13 | PAX3 |
Ivone Leong gene: PAX3 was added gene: PAX3 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PAX3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PAX3 were set to Waardenburg syndrome, type 1, 193500; Waardenburg syndrome, type 3, 148820 |
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Structural eye disease v0.13 | P3H2 |
Ivone Leong gene: P3H2 was added gene: P3H2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: P3H2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: P3H2 were set to MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, 614292 |
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Structural eye disease v0.13 | OCRL |
Ivone Leong gene: OCRL was added gene: OCRL was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OCRL were set to 19168822 Phenotypes for gene: OCRL were set to Lowe syndrome, 309000 |
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Structural eye disease v0.13 | NOTCH2 |
Ivone Leong gene: NOTCH2 was added gene: NOTCH2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH2 were set to 22173065 Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome, 102500; Alagille syndrome 2, 610205 |
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Structural eye disease v0.13 | NHS |
Ivone Leong gene: NHS was added gene: NHS was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NHS were set to 28922055; 17417607; 23566852 Phenotypes for gene: NHS were set to Nance-Horan syndrome, 302350; Cataract 40, X-linked, 302200 |
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Structural eye disease v0.13 | NF2 |
Ivone Leong gene: NF2 was added gene: NF2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF2 were set to Neurofibromatosis, Type II, 101000 |
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Structural eye disease v0.13 | MYH9 |
Ivone Leong gene: MYH9 was added gene: MYH9 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH9 were set to Epstein Syndrome, 153650; Fechtner syndrome, 153640 |
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Structural eye disease v0.13 | MIR184 |
Ivone Leong gene: MIR184 was added gene: MIR184 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MIR184 were set to EDICT syndrome, 614303 |
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Structural eye disease v0.13 | MIP |
Ivone Leong gene: MIP was added gene: MIP was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: MIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MIP were set to Cataract 15, multiple types, 615274 |
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Structural eye disease v0.13 | MAN2B1 |
Ivone Leong gene: MAN2B1 was added gene: MAN2B1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, 248500 |
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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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Structural eye disease v0.13 | LIM2 |
Ivone Leong gene: LIM2 was added gene: LIM2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: LIM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIM2 were set to Cataract 19, 615277 |
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Structural eye disease v0.13 | LCAT |
Ivone Leong gene: LCAT was added gene: LCAT was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LCAT were set to Norum disease, 245900; Fish-eye disease, 136120 |
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Structural eye disease v0.13 | LAMB2 |
Ivone Leong gene: LAMB2 was added gene: LAMB2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMB2 were set to 27130041; 30778388; 28188379; 30120985; 28683731; 29450879 Phenotypes for gene: LAMB2 were set to Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049 |
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Structural eye disease v0.13 | KRT3 |
Ivone Leong gene: KRT3 was added gene: KRT3 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: KRT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT3 were set to Meesmann corneal dystrophy, 122100 |
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Structural eye disease v0.13 | KRT12 |
Ivone Leong gene: KRT12 was added gene: KRT12 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: KRT12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT12 were set to Meesmann corneal dystrophy, 122100 |
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Structural eye disease v0.13 | KMT2D |
Ivone Leong gene: KMT2D was added gene: KMT2D was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KMT2D were set to Kabuki syndrome 1 (can include coloboma), 147920 |
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Structural eye disease v0.13 | KERA |
Ivone Leong gene: KERA was added gene: KERA was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: KERA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KERA were set to Cornea plana congenita, recessive, 217300 |
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Structural eye disease v0.13 | KAT6B |
Ivone Leong gene: KAT6B was added gene: KAT6B was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KAT6B were set to SBBYSS syndrome (blepharophimosis), 603736 |
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Structural eye disease v0.13 | JAM3 |
Ivone Leong gene: JAM3 was added gene: JAM3 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 |
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Structural eye disease v0.13 | ITPR1 |
Ivone Leong gene: ITPR1 was added gene: ITPR1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700 |
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Structural eye disease v0.13 | ITPA |
Ivone Leong gene: ITPA was added gene: ITPA was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPA were set to 26224535 Phenotypes for gene: ITPA were set to Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation; None |
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Structural eye disease v0.13 | HSF4 |
Ivone Leong gene: HSF4 was added gene: HSF4 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HSF4 were set to Cataract 5, multiple types, 116800 |
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Structural eye disease v0.13 | GSN |
Ivone Leong gene: GSN was added gene: GSN was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GSN were set to Amyloidosis, Finnish type, 105120 |
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Structural eye disease v0.13 | GNPTG |
Ivone Leong gene: GNPTG was added gene: GNPTG was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma, Retinitis Pigmentosa and skeletal abnormalities, 252605 |
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Structural eye disease v0.13 | GJA8 |
Ivone Leong gene: GJA8 was added gene: GJA8 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJA8 were set to Cataract 1, multiple types, 116200 |
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Structural eye disease v0.13 | GJA3 |
Ivone Leong gene: GJA3 was added gene: GJA3 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJA3 were set to Cataract 14, multiple types, 601885 |
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Structural eye disease v0.13 | GFER |
Ivone Leong gene: GFER was added gene: GFER was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 |
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Structural eye disease v0.13 | GCNT2 |
Ivone Leong gene: GCNT2 was added gene: GCNT2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: GCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GCNT2 were set to Cataract 13 with adult i phenotype, 116700 |
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Structural eye disease v0.13 | GALT |
Ivone Leong gene: GALT was added gene: GALT was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALT were set to Galactosemia, 230400 |
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Structural eye disease v0.13 | GALK1 |
Ivone Leong gene: GALK1 was added gene: GALK1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts, 230200 |
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Structural eye disease v0.13 | FZD5 |
Ivone Leong gene: FZD5 was added gene: FZD5 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FZD5 were set to 26908622 Phenotypes for gene: FZD5 were set to Coloboma, None |
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Structural eye disease v0.13 | FYCO1 |
Ivone Leong gene: FYCO1 was added gene: FYCO1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FYCO1 were set to Cataract 18, autosomal recessive, 610019 |
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Structural eye disease v0.13 | FTL |
Ivone Leong gene: FTL was added gene: FTL was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FTL were set to Hyperferritinemia-cataract syndrome, 600886 |
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Structural eye disease v0.13 | FOXL2 |
Ivone Leong gene: FOXL2 was added gene: FOXL2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXL2 were set to Blepharophimosis, epicanthus inversus, and ptosis, 110100 |
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Structural eye disease v0.13 | FNBP4 |
Ivone Leong gene: FNBP4 was added gene: FNBP4 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: FNBP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FNBP4 were set to Microphthalmia with Limb anomalies (Classified as variant of unknown significance on OMIM), 206920 |
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Structural eye disease v0.13 | FBN1 |
Ivone Leong gene: FBN1 was added gene: FBN1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBN1 were set to 1301946, 8136837 Phenotypes for gene: FBN1 were set to Marfan syndrome, 154700; Weill-Marchesani syndrome 2, dominant, 608328; MASS syndrome, 604308; Marfan lipodystrophy syndrome, 616914; Ectopia lentis, familial, 129600 |
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Structural eye disease v0.13 | FAM126A |
Ivone Leong gene: FAM126A was added gene: FAM126A was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM126A were set to LEUKODYSTROPHY, HYPOMYELINATING, 5 (includes congenital cataract), 610532 |
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Structural eye disease v0.13 | FAM111A |
Ivone Leong gene: FAM111A was added gene: FAM111A was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FAM111A were set to Gracile bone dysplasia; 127000; 602361; Kenny-Caffey syndrome, type 2 |
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Structural eye disease v0.13 | FADD |
Ivone Leong gene: FADD was added gene: FADD was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: FADD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FADD were set to 17656375 Phenotypes for gene: FADD were set to None; Iris coloboma, retinal coloboma |
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Structural eye disease v0.13 | EYA1 |
Ivone Leong gene: EYA1 was added gene: EYA1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EYA1 were set to Branchiootic syndrome 1, 602588; Anterior segment anomalies with or without cataract, 113650 |
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Structural eye disease v0.13 | EPHA2 |
Ivone Leong gene: EPHA2 was added gene: EPHA2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: EPHA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EPHA2 were set to Cataract 6, multiple types, 116600 |
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Structural eye disease v0.13 | EPG5 |
Ivone Leong gene: EPG5 was added gene: EPG5 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPG5 were set to Vici syndrome, 242840 |
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Structural eye disease v0.13 | DPYD |
Ivone Leong gene: DPYD was added gene: DPYD was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency , 274270 |
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Structural eye disease v0.13 | DHX38 |
Ivone Leong gene: DHX38 was added gene: DHX38 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: DHX38 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHX38 were set to Retinitis Pigmentosa and Macular Coloboma, 618220 |
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Structural eye disease v0.13 | DHCR7 |
Ivone Leong gene: DHCR7 was added gene: DHCR7 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400 |
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Structural eye disease v0.13 | DCN |
Ivone Leong gene: DCN was added gene: DCN was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: DCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DCN were set to Corneal dystrophy, congenital stromal, 610048 |
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Structural eye disease v0.13 | CYP51A1 |
Ivone Leong gene: CYP51A1 was added gene: CYP51A1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: CYP51A1 was set to |
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Structural eye disease v0.13 | CTDP1 |
Ivone Leong gene: CTDP1 was added gene: CTDP1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTDP1 were set to Congenital cataracts, facial dysmorphism, and neuropathy, 604168 |
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Structural eye disease v0.13 | CRYGS |
Ivone Leong gene: CRYGS was added gene: CRYGS was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: CRYGS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CRYGS were set to Cataract 20, multiple types, 116100 |
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Structural eye disease v0.13 | CRYGD |
Ivone Leong gene: CRYGD was added gene: CRYGD was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CRYGD were set to Cataract 4, Multiple Types, 115700 |
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Structural eye disease v0.13 | CRYGC |
Ivone Leong gene: CRYGC was added gene: CRYGC was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYGC were set to 29386872; 24281366 Phenotypes for gene: CRYGC were set to Cataract 2, multiple types (often with microcornea), 604307 |
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Structural eye disease v0.13 | CRYGB |
Ivone Leong gene: CRYGB was added gene: CRYGB was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: CRYGB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CRYGB were set to Cataract 39, multiple types, autosomal dominant, 615188 |
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Structural eye disease v0.13 | CRYBB3 |
Ivone Leong gene: CRYBB3 was added gene: CRYBB3 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: CRYBB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CRYBB3 were set to Cataract 22, autosomal recessive, 609741 |
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Structural eye disease v0.13 | CRYBB2 |
Ivone Leong gene: CRYBB2 was added gene: CRYBB2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYBB2 were set to 29386872 Phenotypes for gene: CRYBB2 were set to Cataract 3, multiple types, 601547 |
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Structural eye disease v0.13 | CRYBB1 |
Ivone Leong gene: CRYBB1 was added gene: CRYBB1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CRYBB1 were set to 29386872 Phenotypes for gene: CRYBB1 were set to Cataract 17, multiple types, 611544 |
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Structural eye disease v0.13 | CRYBA4 |
Ivone Leong gene: CRYBA4 was added gene: CRYBA4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYBA4 were set to 16960806; 20577656 Phenotypes for gene: CRYBA4 were set to Cataract 23 (and microphthalmia in 1 case), 610425 |
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Structural eye disease v0.13 | CRYBA1 |
Ivone Leong gene: CRYBA1 was added gene: CRYBA1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYBA1 were set to 26303524 Phenotypes for gene: CRYBA1 were set to Cataract 10, multiple types, 600881 |
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Structural eye disease v0.13 | CRYAB |
Ivone Leong gene: CRYAB was added gene: CRYAB was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CRYAB were set to CATARACT 16, MULTIPLE TYPES, 613763 |
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Structural eye disease v0.13 | CRYAA |
Ivone Leong gene: CRYAA was added gene: CRYAA was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CRYAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYAA were set to 30340470; 17296897; 18302245 Phenotypes for gene: CRYAA were set to Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219 |
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Structural eye disease v0.13 | CRIM1 |
Ivone Leong gene: CRIM1 was added gene: CRIM1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CRIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRIM1 were set to 25561690; 26681494 Phenotypes for gene: CRIM1 were set to Macrophthalmia, Colobomatous, with microcornea, 602499 |
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Structural eye disease v0.13 | COL8A2 |
Ivone Leong gene: COL8A2 was added gene: COL8A2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: COL8A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL8A2 were set to Corneal dystrophy, Fuchs endothelial, 1, 136800; Corneal dystrophy, posterior polymorphous 2, 609140 |
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Structural eye disease v0.13 | COL18A1 |
Ivone Leong gene: COL18A1 was added gene: COL18A1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL18A1 were set to 17546652; 22399687 Phenotypes for gene: COL18A1 were set to Knobloch syndrome, type 1, 267750 |
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Structural eye disease v0.13 | CHST6 |
Ivone Leong gene: CHST6 was added gene: CHST6 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: CHST6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHST6 were set to Macular corneal dystrophy, 217800 |
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Structural eye disease v0.13 | CHRDL1 |
Ivone Leong gene: CHRDL1 was added gene: CHRDL1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CHRDL1 were set to 22284829 Phenotypes for gene: CHRDL1 were set to Megalocornea 1, X-linked, 309300 |
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Structural eye disease v0.13 | CHMP4B |
Ivone Leong gene: CHMP4B was added gene: CHMP4B was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: CHMP4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHMP4B were set to 17701905 Phenotypes for gene: CHMP4B were set to Cataract 31, multiple types, 605387 |
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Structural eye disease v0.13 | CBS |
Ivone Leong gene: CBS was added gene: CBS was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBS were set to 24169224; 11774777; 21626167; 7611293 Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200 |
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Structural eye disease v0.13 | BFSP2 |
Ivone Leong gene: BFSP2 was added gene: BFSP2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BFSP2 were set to Cataract 12, multiple types, 611597 |
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Structural eye disease v0.13 | BFSP1 |
Ivone Leong gene: BFSP1 was added gene: BFSP1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: BFSP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: BFSP1 were set to Cataract 33, 611391 |
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Structural eye disease v0.13 | ALDH18A1 |
Ivone Leong gene: ALDH18A1 was added gene: ALDH18A1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALDH18A1 were set to 21739576 Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA, 219150 |
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Structural eye disease v0.13 | AGPS |
Ivone Leong gene: AGPS was added gene: AGPS was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3, 600121 |
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Structural eye disease v0.13 | AGK |
Ivone Leong gene: AGK was added gene: AGK was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGK were set to Cataract 38, autosomal recessive, 614691; Sengers syndrome, 212350 |
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Structural eye disease v0.13 | AGBL1 |
Ivone Leong gene: AGBL1 was added gene: AGBL1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: AGBL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AGBL1 were set to Corneal dystrophy, Fuchs endothelial, 8, 615523 |
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Structural eye disease v0.13 | ADAMTSL4 |
Ivone Leong gene: ADAMTSL4 was added gene: ADAMTSL4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ADAMTSL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTSL4 were set to 20141359; 25975359; 20702823 Phenotypes for gene: ADAMTSL4 were set to Ectopia lentis et pupillae, 225200; Ectopia lentis, isolated, autosomal recessive, 225100 |
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Structural eye disease v0.13 | ADAMTS18 |
Ivone Leong gene: ADAMTS18 was added gene: ADAMTS18 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS18 were set to 23818446 Phenotypes for gene: ADAMTS18 were set to Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 |