Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Corneal dystrophy v3.10 | PDGFRB |
Eleanor Williams gene: PDGFRB was added gene: PDGFRB was added to Corneal dystrophy. Sources: Literature Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDGFRB were set to 33450762 Review for gene: PDGFRB was set to RED Added comment: PMID: 33450762 - Bedrup et al 2021 - report a case of a dominant activating substitution in PDGFRB, NM_002609.3(PDGFRB):c.1996A > T, p.(Asn666Tyr), in a family with Ocular pterygium-digital keloid dysplasia (OPDKD) in which ingrowth of vascularized connective tissue on the cornea leads to severely reduced vision. The variant is affecting the same codon as reported for Penttinen syndrome (which causes widespread destruction of connective tissue causing severe disfigurement). However, unlike the Penttinen syndrome substitution, it was found that the OPDKD substitution is highly activated only at 32°C which is in cocordance with the fact that OPDKD are restricted to body parts (cornea and digits) with lower and more variable temperature than the core temperature. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v3.9 | LTBP2 | Arina Puzriakova Classified gene: LTBP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v3.9 | LTBP2 | Arina Puzriakova Added comment: Comment on list classification: This gene could be promoted to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v3.9 | LTBP2 | Arina Puzriakova Gene: ltbp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v3.8 | LTBP2 |
Arina Puzriakova gene: LTBP2 was added gene: LTBP2 was added to Corneal dystrophy. Sources: Literature Q4_23_promote_green tags were added to gene: LTBP2. Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP2 were set to 19656777; 19361779; 21081970; 20179738; 22539340; 20617341; 22025892 Phenotypes for gene: LTBP2 were set to Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, OMIM:251750; Glaucoma 3, primary congenital, D, OMIM:613086; Weill-Marchesani syndrome 3, recessive, OMIM:614819 Review for gene: LTBP2 was set to GREEN Added comment: Variants in this gene are typically associated with ocular abnormalities, including microspherophakia, megalocornea, ectopia lentis and glaucoma. At least three unrelated individual cases have been associated with megalocornea. This gene was rated as green on the Corneal abnormalities 100K panel and is associated with a relevant phenotype in OMIM and Gene2Phenotype. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v3.5 | TCF4 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v3.5 | TCF4 | Sarah Leigh Publications for gene: TCF4 were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v3.3 | Eleanor Williams Panel version 3.2 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v3.2 | Eleanor Williams Panel signed off version 3.0 has been removed | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v3.1 | Catherine Snow Panel version 3.0 has been signed off on 2022-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v3.0 | Catherine Snow promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v2.4 |
Achchuthan Shanmugasundram Panel name changed from Corneal dystrophies to Corneal dystrophy List of related panels changed from R262 to Corneal dystrophies; R262 |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v2.3 | TGFBI | Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: TGFBI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v2.3 | TGFBI | Achchuthan Shanmugasundram commented on gene: TGFBI | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v2.2 | TGFBI |
Achchuthan Shanmugasundram Source NHS GMS was added to TGFBI. Mode of inheritance for gene TGFBI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v2.1 | Catherine Snow Panel version 2.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v2.0 | Catherine Snow promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.13 | TGFBI | Arina Puzriakova Tag Q1_22_MOI tag was added to gene: TGFBI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.13 | COL17A1 | Arina Puzriakova Phenotypes for gene: COL17A1 were changed from Epithelial recurrent erosion dystrophy 122400 to Epithelial recurrent erosion dystrophy, OMIM:122400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.12 | GSN | Arina Puzriakova Phenotypes for gene: GSN were changed from Amyloidosis, Finnish type 105120 to Amyloidosis, Finnish type, OMIM:105120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.11 | GRHL2 | Arina Puzriakova Phenotypes for gene: GRHL2 were changed from Corneal dystrophy, posterior polymorphous, 4 618031 to Corneal dystrophy, posterior polymorphous, 4, OMIM:618031 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.10 | TGFBI | Ivone Leong reviewed gene: TGFBI: Rating: ; Mode of pathogenicity: None; Publications: 31322463, 30830990, 32952948; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.10 | MIR184 | Ivone Leong Tag for-review was removed from gene: MIR184. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.10 | MIR184 | Ivone Leong commented on gene: MIR184: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.9 | MIR184 |
Ivone Leong Source Expert Review Red was added to MIR184. Rating Changed from Green List (high evidence) to Red List (low evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.8 | TCF4 | Sarah Leigh changed review comment from: Comment on publications: Also https://doi.org/10.3390/genes12121918 (no PMID available 30th Dec 2021).; to: Comment on publications: Also https://doi.org/10.3390/genes12121918 (no PMID available 30th Nov 2021). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy 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 dystrophy v1.7 | TCF4 | Dmitrijs Rots reviewed gene: TCF4: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.7 | TCF4 | Sarah Leigh Added comment: Comment on publications: Also https://doi.org/10.3390/genes12121918 (no PMID available 30th Dec 2021). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.7 | TCF4 | Sarah Leigh Publications for gene: TCF4 were set to 29526280; 26401622 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.6 | VSX1 | Ivone Leong Classified gene: VSX1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy 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 dystrophy v1.6 | VSX1 | Ivone Leong Gene: vsx1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.5 | VSX1 | Ivone Leong Phenotypes for gene: VSX1 were changed from Keratoconus 1, MIM# 148300 to Keratoconus 1, OMIM:148300, MONDO:0007851 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.4 | MIR184 | Ivone Leong reviewed gene: MIR184: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.4 | MIR184 | Ivone Leong Tag for-review tag was added to gene: MIR184. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.4 | MIR184 | Ivone Leong Phenotypes for gene: MIR184 were changed from EDICT syndrome 614303 to EDICT syndrome OMIM:614303, MONDO:0013678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy 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 dystrophy 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 dystrophy v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v0.8 | Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v0.7 | Ivone Leong List of related panels changed from to R262 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v0.6 | TCF4 | Ivone Leong Classified gene: TCF4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v0.6 | TCF4 | Ivone Leong Gene: tcf4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy 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 dystrophy v0.3 | LCAT | Morag Shanks reviewed gene: LCAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 2370048, 1859405, 1681161; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v0.3 | PRDM5 | Morag Shanks reviewed gene: PRDM5: Rating: GREEN; Mode of pathogenicity: ; Publications: 21664999, 22122778; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy 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 dystrophy v0.3 | STS | Morag Shanks reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: ; Publications: 3169744, 9252398, 1539590; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v0.3 | GSN | Morag Shanks reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: ; Publications: 2153578, 1652889, 8388189; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v0.3 | COL17A1 | Morag Shanks reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14562173, 19710953, 25564336; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v0.3 | ZEB1 | Morag Shanks reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16252232, 2003649; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy 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 dystrophy 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 dystrophy v0.3 | TACSTD2 | Morag Shanks reviewed gene: TACSTD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10192395, 17898270; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v0.3 | SLC4A11 | Morag Shanks reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: ; Publications: 16767101, 16825429; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy 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 dystrophy v0.3 | OVOL2 | Morag Shanks reviewed gene: OVOL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26749309; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy 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 dystrophy 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 dystrophy v0.3 | KRT12 | Morag Shanks reviewed gene: KRT12: Rating: GREEN; Mode of pathogenicity: ; Publications: 9171931, 8759347, 10644419; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy 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 dystrophy v0.3 | GRHL2 | Morag Shanks reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29499165; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v0.3 | DCN | Morag Shanks reviewed gene: DCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 15671264, 16935612, 24413633; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v0.3 | COL8A2 | Morag Shanks reviewed gene: COL8A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11689488; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy 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 dystrophy v0.1 | Ivone Leong Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal dystrophy v0.0 |
Ivone Leong Added Panel Corneal dystrophies Set panel types to: GMS Rare Disease |