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Corneal dystrophies v1.8 TCF4 Ivone Leong Phenotypes for gene: TCF4 were changed from Corneal dystrophy, Fuchs endothelial, 3, 613267 to Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267
Corneal dystrophies v1.7 TCF4 Dmitrijs Rots reviewed gene: TCF4: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: None
Corneal dystrophies v1.7 TCF4 Sarah Leigh Added comment: Comment on publications: Also https://doi.org/10.3390/genes12121918 (no PMID available 30th Dec 2021).
Corneal dystrophies v1.7 TCF4 Sarah Leigh Publications for gene: TCF4 were set to 29526280; 26401622
Corneal dystrophies v1.6 VSX1 Ivone Leong Classified gene: VSX1 as Red List (low evidence)
Corneal dystrophies v1.6 VSX1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is enough evidence to support a gene-disease association for this gene; however, this gene has been given a Red rating as it does not fit in the scope of the clinical indication for this panel.
Corneal dystrophies v1.6 VSX1 Ivone Leong Gene: vsx1 has been classified as Red List (Low Evidence).
Corneal dystrophies v1.5 VSX1 Ivone Leong Phenotypes for gene: VSX1 were changed from Keratoconus 1, MIM# 148300 to Keratoconus 1, OMIM:148300, MONDO:0007851
Corneal dystrophies v1.4 MIR184 Ivone Leong reviewed gene: MIR184: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Corneal dystrophies v1.4 MIR184 Ivone Leong Tag for-review tag was added to gene: MIR184.
Corneal dystrophies v1.4 MIR184 Ivone Leong Phenotypes for gene: MIR184 were changed from EDICT syndrome 614303 to EDICT syndrome OMIM:614303, MONDO:0013678
Corneal dystrophies v1.3 VSX1 Zornitza Stark gene: VSX1 was added
gene: VSX1 was added to Corneal dystrophies. Sources: Expert list
Mode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VSX1 were set to Keratoconus 1, MIM# 148300
Review for gene: VSX1 was set to GREEN
gene: VSX1 was marked as current diagnostic
Added comment: Keratoconus is a corneal dystrophy.
Sources: Expert list
Corneal dystrophies v1.3 MIR184 Zornitza Stark reviewed gene: MIR184: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: EDICT syndrome, MIM# 614303; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Corneal dystrophies v1.3 Sarah Leigh Panel version has been signed off
Corneal dystrophies v1.0 Ivone Leong promoted panel to version 1.0
Corneal dystrophies v0.8 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Corneal dystrophies v0.7 Ivone Leong List of related panels changed from to R262
Corneal dystrophies v0.6 TCF4 Ivone Leong Classified gene: TCF4 as Green List (high evidence)
Corneal dystrophies v0.6 TCF4 Ivone Leong Gene: tcf4 has been classified as Green List (High Evidence).
Corneal dystrophies v0.5 TCF4 Ivone Leong gene: TCF4 was added
gene: TCF4 was added to Corneal dystrophies. Sources: Expert list
STR tags were added to gene: TCF4.
Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TCF4 were set to 29526280; 26401622
Phenotypes for gene: TCF4 were set to Corneal dystrophy, Fuchs endothelial, 3, 613267
Review for gene: TCF4 was set to GREEN
Added comment: TCF4 is associated with Corneal dystrophy in OMIM but not in Gene2Phenotype. There is enough evidence for this gene to be rated green on this panel. It should be noted that the CTG18.1 repeat expansion in the intronic region of TCF4 may be difficult to analyse due to technical difficulties with short-read WGS.
Sources: Expert list
Corneal dystrophies v0.3 LCAT Morag Shanks reviewed gene: LCAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 2370048, 1859405, 1681161; Phenotypes: ; Mode of inheritance:
Corneal dystrophies v0.3 PRDM5 Morag Shanks reviewed gene: PRDM5: Rating: GREEN; Mode of pathogenicity: ; Publications: 21664999, 22122778; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophies v0.3 ZNF469 Morag Shanks reviewed gene: ZNF469: Rating: GREEN; Mode of pathogenicity: ; Publications: 18452888, 19661234, 20938016; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophies v0.3 STS Morag Shanks reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: ; Publications: 3169744, 9252398, 1539590; Phenotypes: ; Mode of inheritance:
Corneal dystrophies v0.3 GSN Morag Shanks reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: ; Publications: 2153578, 1652889, 8388189; Phenotypes: ; Mode of inheritance:
Corneal dystrophies v0.3 COL17A1 Morag Shanks reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14562173, 19710953, 25564336; Phenotypes: ; Mode of inheritance:
Corneal dystrophies v0.3 ZEB1 Morag Shanks reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16252232, 2003649; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophies v0.3 UBIAD1 Morag Shanks reviewed gene: UBIAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17668063, 17962451, 18176953; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophies v0.3 TGFBI Morag Shanks reviewed gene: TGFBI: Rating: GREEN; Mode of pathogenicity: ; Publications: 17962451, 17668063, 23169578; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophies v0.3 TACSTD2 Morag Shanks reviewed gene: TACSTD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10192395, 17898270; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophies v0.3 SLC4A11 Morag Shanks reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: ; Publications: 16767101, 16825429; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophies v0.3 PIKFYVE Morag Shanks reviewed gene: PIKFYVE: Rating: GREEN; Mode of pathogenicity: ; Publications: 26396486, 23288988, 15902656; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophies v0.3 OVOL2 Morag Shanks reviewed gene: OVOL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26749309; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophies v0.3 MIR184 Morag Shanks reviewed gene: MIR184: Rating: GREEN; Mode of pathogenicity: ; Publications: 21996275, 25157590, 24138095; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophies v0.3 KRT3 Morag Shanks reviewed gene: KRT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 9171831, 16227835, 188806880; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophies v0.3 KRT12 Morag Shanks reviewed gene: KRT12: Rating: GREEN; Mode of pathogenicity: ; Publications: 9171931, 8759347, 10644419; Phenotypes: ; Mode of inheritance:
Corneal dystrophies v0.3 KERA Morag Shanks reviewed gene: KERA: Rating: GREEN; Mode of pathogenicity: ; Publications: 23834557, 10802664, 11726611; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophies v0.3 GRHL2 Morag Shanks reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29499165; Phenotypes: ; Mode of inheritance:
Corneal dystrophies v0.3 DCN Morag Shanks reviewed gene: DCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 15671264, 16935612, 24413633; Phenotypes: ; Mode of inheritance:
Corneal dystrophies v0.3 COL8A2 Morag Shanks reviewed gene: COL8A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11689488; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophies v0.3 CHST6 Morag Shanks reviewed gene: CHST6: Rating: GREEN; Mode of pathogenicity: ; Publications: 11017086, 11818380, 15013869; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophies v0.2 LCAT Ivone Leong gene: LCAT was added
gene: LCAT was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCAT were set to 1859405; 2370048; 1681161
Phenotypes for gene: LCAT were set to Fish-eye disease 136120; Norum disease 245900
Corneal dystrophies v0.2 PRDM5 Ivone Leong gene: PRDM5 was added
gene: PRDM5 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM5 were set to 22122778; 21664999
Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 614170
Corneal dystrophies v0.2 ZNF469 Ivone Leong gene: ZNF469 was added
gene: ZNF469 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF469 were set to 20938016; 19661234; 18452888
Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome 1 229200
Corneal dystrophies v0.2 STS Ivone Leong gene: STS was added
gene: STS was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: STS 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: STS were set to 1539590; 3169744; 9252398
Phenotypes for gene: STS were set to Ichthyosis, X-linked
Corneal dystrophies v0.2 GSN Ivone Leong gene: GSN was added
gene: GSN was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GSN were set to 2153578; 1652889; 8388189
Phenotypes for gene: GSN were set to Amyloidosis, Finnish type 105120
Corneal dystrophies v0.2 COL17A1 Ivone Leong gene: COL17A1 was added
gene: COL17A1 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: COL17A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL17A1 were set to 25564336; 19710953; 14562173
Phenotypes for gene: COL17A1 were set to Epithelial recurrent erosion dystrophy 122400
Corneal dystrophies v0.2 ZEB1 Ivone Leong gene: ZEB1 was added
gene: ZEB1 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: ZEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZEB1 were set to 2003649; 16252232
Phenotypes for gene: ZEB1 were set to Corneal dystrophy, posterior polymorphous, 3 609141; Corneal dystrophy, Fuchs endothelial, 6 613270
Corneal dystrophies v0.2 UBIAD1 Ivone Leong gene: UBIAD1 was added
gene: UBIAD1 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: UBIAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBIAD1 were set to 17962451; 18176953; 17668063
Phenotypes for gene: UBIAD1 were set to Corneal dystrophy, Schnyder type 121800
Corneal dystrophies v0.2 TGFBI Ivone Leong gene: TGFBI was added
gene: TGFBI was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: TGFBI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGFBI were set to 17962451; 23169578; 17668063
Phenotypes for gene: TGFBI were set to Corneal dystrophy, Groenouw type I 121900; Corneal dystrophy, Avellino type 607541; Corneal dystrophy, Thiel-Behnke type 602082; Corneal dystrophy, lattice type I 122200; Corneal dystrophy, Reis-Bucklers type 608470; Corneal dystrophy, epithelial basement membrane 121820; Corneal dystrophy, lattice type IIIA 608471
Corneal dystrophies v0.2 TACSTD2 Ivone Leong gene: TACSTD2 was added
gene: TACSTD2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: TACSTD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TACSTD2 were set to 17898270; 10192395
Phenotypes for gene: TACSTD2 were set to Corneal dystrophy, gelatinous drop-like 204870
Corneal dystrophies v0.2 SLC4A11 Ivone Leong gene: SLC4A11 was added
gene: SLC4A11 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A11 were set to 16767101; 16825429
Phenotypes for gene: SLC4A11 were set to Corneal dystrophy, Fuchs endothelial, 4 613268; Corneal endothelial dystrophy and perceptive deafness 217400; Corneal endothelial dystrophy, autosomal recessive 217700
Corneal dystrophies v0.2 PIKFYVE Ivone Leong gene: PIKFYVE was added
gene: PIKFYVE was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: PIKFYVE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIKFYVE were set to 26396486; 15902656; 23288988
Phenotypes for gene: PIKFYVE were set to Corneal fleck dystrophy 121850
Corneal dystrophies v0.2 OVOL2 Ivone Leong gene: OVOL2 was added
gene: OVOL2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: OVOL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OVOL2 were set to 26749309
Phenotypes for gene: OVOL2 were set to Corneal dystrophy, posterior polymorphous, 1 122000
Corneal dystrophies v0.2 MIR184 Ivone Leong gene: MIR184 was added
gene: MIR184 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR184 were set to 25157590; 21996275; 24138095
Phenotypes for gene: MIR184 were set to EDICT syndrome 614303
Corneal dystrophies v0.2 KRT3 Ivone Leong gene: KRT3 was added
gene: KRT3 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: KRT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT3 were set to 9171831; 188806880; 16227835
Phenotypes for gene: KRT3 were set to Meesmann corneal dystrophy 122100
Corneal dystrophies v0.2 KRT12 Ivone Leong gene: KRT12 was added
gene: KRT12 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: KRT12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT12 were set to 9171931; 10644419; 8759347
Phenotypes for gene: KRT12 were set to Meesmann corneal dystrophy 122100
Corneal dystrophies v0.2 KERA Ivone Leong gene: KERA was added
gene: KERA was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: KERA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KERA were set to 23834557; 11726611; 10802664
Phenotypes for gene: KERA were set to Cornea plana 2 217300
Corneal dystrophies v0.2 GRHL2 Ivone Leong gene: GRHL2 was added
gene: GRHL2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRHL2 were set to 29499165
Phenotypes for gene: GRHL2 were set to Corneal dystrophy, posterior polymorphous, 4 618031
Corneal dystrophies v0.2 DCN Ivone Leong gene: DCN was added
gene: DCN was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: DCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DCN were set to 24413633; 15671264; 16935612
Phenotypes for gene: DCN were set to Corneal dystrophy, congenital stromal 610048
Corneal dystrophies v0.2 COL8A2 Ivone Leong gene: COL8A2 was added
gene: COL8A2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: COL8A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL8A2 were set to 11689488
Phenotypes for gene: COL8A2 were set to Corneal dystrophy, Fuchs endothelial, 1 136800; Corneal dystrophy, posterior polymorphous 2 609140
Corneal dystrophies v0.2 CHST6 Ivone Leong gene: CHST6 was added
gene: CHST6 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: CHST6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST6 were set to 15013869; 11818380; 11017086
Phenotypes for gene: CHST6 were set to Macular corneal dystrophy 217800
Corneal dystrophies v0.1 Ivone Leong Panel status changed from internal to public
Corneal dystrophies v0.0 Ivone Leong Added Panel Corneal dystrophies
Set panel types to: GMS Rare Disease