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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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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)
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)
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)
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)
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)
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)
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)
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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)
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)
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)
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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
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
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
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
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
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.
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
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
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)
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)
Structural eye disease v0.89 TUBB Ivone Leong Source NHS GMS was added to TUBB.
Publications for gene TUBB were changed from to 26637975
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)
Structural eye disease v0.89 SMG9 Ivone Leong Source NHS GMS was added to SMG9.
Publications for gene SMG9 were changed from to 27018474
Structural eye disease v0.89 SLC25A24 Ivone Leong Source NHS GMS was added to SLC25A24.
Publications for gene SLC25A24 were changed from to 29100093
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)
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)
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)
Structural eye disease v0.89 POMGNT2 Ivone Leong Source NHS GMS was added to POMGNT2.
Publications for gene POMGNT2 were changed from to 22958903
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)
Structural eye disease v0.89 FANCL Ivone Leong Source NHS GMS was added to FANCL.
Publications for gene FANCL were changed from to 25754594
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)
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)
Structural eye disease v0.89 KIF11 Ivone Leong Source NHS GMS was added to KIF11.
Publications for gene KIF11 were changed from to 27212378
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
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)
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)
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)
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)
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)
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)
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)
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)
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
Structural eye disease v0.89 COX7B Ivone Leong Source NHS GMS was added to COX7B.
Publications for gene COX7B were changed from to 23122588
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)
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Structural eye disease v0.15 TRIM44 Ivone Leong Source NHS GMS was added to TRIM44.
Added phenotypes ANIRIDIA 3, 617142 for gene: TRIM44
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
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
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
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
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)
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)
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
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)
Structural eye disease v0.15 TMEM138 Ivone Leong Source NHS GMS was added to TMEM138.
Added phenotypes Joubert syndrome 16, 614465 for gene: TMEM138
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
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
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
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)
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)
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
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
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
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,
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Structural eye disease v0.15 DDB1 Ivone Leong Source NHS GMS was added to DDB1.
Publications for gene DDB1 were changed from to 17129780
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Structural eye disease v0.15 CEP41 Ivone Leong Source NHS GMS was added to CEP41.
Added phenotypes Joubert syndrome 15, 614464 for gene: CEP41
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
Structural eye disease v0.15 AHI1 Ivone Leong Source NHS GMS was added to AHI1.
Added phenotypes Joubert syndrome 3, 608629 for gene: AHI1
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
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
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
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
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
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
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
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
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)
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)
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)
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
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)
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
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)
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
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
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
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
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
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
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
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
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
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
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
Structural eye disease v0.15 RPGRIP1L Ivone Leong Source NHS GMS was added to RPGRIP1L.
Added phenotypes COACH syndrome, 216360 for gene: RPGRIP1L
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Structural eye disease v0.15 CC2D2A Ivone Leong Source NHS GMS was added to CC2D2A.
Added phenotypes COACH syndrome, 216360 for gene: CC2D2A
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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