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Corneal dystrophy v4.6 AP1B1 Achchuthan Shanmugasundram Classified gene: AP1B1 as Amber List (moderate evidence)
Corneal dystrophy v4.6 AP1B1 Achchuthan Shanmugasundram Gene: ap1b1 has been classified as Amber List (Moderate Evidence).
Corneal dystrophy v4.5 AP1B1 Achchuthan Shanmugasundram Publications for gene: AP1B1 were set to
Corneal dystrophy v4.4 AP1B1 Achchuthan Shanmugasundram Phenotypes for gene: AP1B1 were changed from to Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150; KID syndrome, MONDO:0018781
Corneal dystrophy v4.3 AP1B1 Ida Ertmanska changed review comment from: PMID: 31630788 Boyden et al., 2019
Individual 424, adult male, born with normal skin; diagnosed with ichthyosis at 2 months old; developmental delay, growth delay, partial hearing loss, tooth loss, profound photophobia, and
corneal scarring leading to near complete vision loss. At age 33 had erythroderma with thin palmoplantar
keratoderma, and a fissured tongue; noted thickening of his palms and soles since childhood.

PMID: 33452671 Vornweg et al., 2021
Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs*26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia.

PMID: 32969855 Meriç et al., 2021
11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia.

PMID: 35144013 Faghihi et al., 2022
Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421*) - WES. Presented with developmental delay, keratitis, ichthyosis, hearing loss, palmoplantar keratoderma, sparse hair, erythroderma; ophthalmologic examination: photophobia, corneal scarring, and eyelid swelling.


AP1B1 is associated with Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 in OMIM (accessed 17th Oct 2025).
This gene was classified as Definitive for AR ichthyosiform erythroderma, corneal involvement, and hearing loss by ClinGen (General Inborn Errors of Metabolism Expert Panel, Aug 2024).; to: PMID: 31630788 Boyden et al., 2019
Individual 424, adult male, born with normal skin; diagnosed with ichthyosis at 2 months old; developmental delay, growth delay, partial hearing loss, tooth loss, profound photophobia, and
corneal scarring leading to near complete vision loss. At age 33 had erythroderma with thin palmoplantar
keratoderma, and a fissured tongue; noted thickening of his palms and soles since childhood.

PMID: 33452671 Vornweg et al., 2021
Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs*26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia.

PMID: 32969855 Meriç et al., 2021
11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia.

PMID: 35144013 Faghihi et al., 2022
Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421*) - WES. Presented with developmental delay, keratitis, ichthyosis, hearing loss, palmoplantar keratoderma, sparse hair, erythroderma; ophthalmologic examination: photophobia, corneal scarring, and eyelid swelling.

AP1B1 is associated with Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 in OMIM (accessed 17th Oct 2025).
This gene was classified as Definitive for AR ichthyosiform erythroderma, corneal involvement, and hearing loss by ClinGen (General Inborn Errors of Metabolism Expert Panel, Aug 2024).
Corneal dystrophy v4.3 AP1B1 Ida Ertmanska changed review comment from: PMID: 31630788 Boyden et al., 2019
Individual 424, adult male, born with normal skin; diagnosed with ichthyosis at 2 months old; developmental delay, growth delay, partial hearing loss, tooth loss, profound photophobia, and
corneal scarring leading to near complete vision loss. At age 33 had erythroderma with thin palmoplantar
keratoderma, and a fissured tongue; noted thickening of his palms and soles since childhood.

PMID: 33452671 Vornweg et al., 2021
Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs*26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia.

PMID: 32969855 Meriç et al., 2021
11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia.

PMID: 35144013 Faghihi et al., 2022
Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421*) - WES. Presented with developmental delay, keratitis, ichthyosis, hearing loss, palmoplantar keratoderma, sparse hair, erythroderma; ophthalmologic examination: photophobia, corneal scarring, and eyelid swelling.

This gene was classified as Definitive for AR ichthyosiform erythroderma, corneal involvement, and hearing loss by ClinGen (General Inborn Errors of Metabolism Expert Panel, Aug 2024).; to: PMID: 31630788 Boyden et al., 2019
Individual 424, adult male, born with normal skin; diagnosed with ichthyosis at 2 months old; developmental delay, growth delay, partial hearing loss, tooth loss, profound photophobia, and
corneal scarring leading to near complete vision loss. At age 33 had erythroderma with thin palmoplantar
keratoderma, and a fissured tongue; noted thickening of his palms and soles since childhood.

PMID: 33452671 Vornweg et al., 2021
Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs*26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia.

PMID: 32969855 Meriç et al., 2021
11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia.

PMID: 35144013 Faghihi et al., 2022
Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421*) - WES. Presented with developmental delay, keratitis, ichthyosis, hearing loss, palmoplantar keratoderma, sparse hair, erythroderma; ophthalmologic examination: photophobia, corneal scarring, and eyelid swelling.


AP1B1 is associated with Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 in OMIM (accessed 17th Oct 2025).
This gene was classified as Definitive for AR ichthyosiform erythroderma, corneal involvement, and hearing loss by ClinGen (General Inborn Errors of Metabolism Expert Panel, Aug 2024).
Corneal dystrophy v4.3 AP1B1 Ida Ertmanska changed review comment from: PMID: 31630788 Boyden et al., 2019
Individual 424, adult male, born with normal skin; diagnosed with ichthyosis at 2 months old; developmental delay, growth delay, partial hearing loss, tooth loss, profound photophobia, and
corneal scarring leading to near complete vision loss. At age 33 had erythroderma with thin palmoplantar
keratoderma, and a fissured tongue; noted thickening of his palms and soles since childhood.

PMID: 33452671 Vornweg et al., 2021
Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs*26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia.

PMID: 32969855 Meriç et al., 2021
11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia.

PMID: 35144013 Faghihi et al., 2022
Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421*) - WES. Presented with developmental delay, keratitis, ichthyosis, hearing loss, palmoplantar keratoderma, sparse hair, erythroderma; ophthalmologic examination: photophobia, corneal scarring, and eyelid swelling.
Sources: Literature; to: PMID: 31630788 Boyden et al., 2019
Individual 424, adult male, born with normal skin; diagnosed with ichthyosis at 2 months old; developmental delay, growth delay, partial hearing loss, tooth loss, profound photophobia, and
corneal scarring leading to near complete vision loss. At age 33 had erythroderma with thin palmoplantar
keratoderma, and a fissured tongue; noted thickening of his palms and soles since childhood.

PMID: 33452671 Vornweg et al., 2021
Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs*26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia.

PMID: 32969855 Meriç et al., 2021
11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia.

PMID: 35144013 Faghihi et al., 2022
Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421*) - WES. Presented with developmental delay, keratitis, ichthyosis, hearing loss, palmoplantar keratoderma, sparse hair, erythroderma; ophthalmologic examination: photophobia, corneal scarring, and eyelid swelling.

This gene was classified as Definitive for AR ichthyosiform erythroderma, corneal involvement, and hearing loss by ClinGen (General Inborn Errors of Metabolism Expert Panel, Aug 2024).
Corneal dystrophy v4.3 AP1B1 Ida Ertmanska edited their review of gene: AP1B1: Added comment: Comment on list classification: While there are at least 4 reported unrelated individuals with photophobia and / or corneal scarring attributed to biallelic variants in AP1B1, in depth ophthalmologic examination and disease mechanism are lacking. Photophobia is only seen in a subset of Keratitis-ichthyosis-deafness syndrome patients. Hence, the gene is rated Amber for Corneal dystrophy.; Changed publications to: 31630788, 33452671, 32969855, 35144013; Changed phenotypes to: Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150, KID syndrome, MONDO:0018781
Corneal dystrophy v4.3 AP1B1 Ida Ertmanska gene: AP1B1 was added
gene: AP1B1 was added to Corneal dystrophy. Sources: Literature
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: AP1B1 was set to AMBER
Added comment: PMID: 31630788 Boyden et al., 2019
Individual 424, adult male, born with normal skin; diagnosed with ichthyosis at 2 months old; developmental delay, growth delay, partial hearing loss, tooth loss, profound photophobia, and
corneal scarring leading to near complete vision loss. At age 33 had erythroderma with thin palmoplantar
keratoderma, and a fissured tongue; noted thickening of his palms and soles since childhood.

PMID: 33452671 Vornweg et al., 2021
Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs*26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia.

PMID: 32969855 Meriç et al., 2021
11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia.

PMID: 35144013 Faghihi et al., 2022
Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421*) - WES. Presented with developmental delay, keratitis, ichthyosis, hearing loss, palmoplantar keratoderma, sparse hair, erythroderma; ophthalmologic examination: photophobia, corneal scarring, and eyelid swelling.
Sources: Literature
Corneal dystrophy v4.3 PRDX3 Eleanor Williams changed review comment from: The 'founder-effect' tag has been added as the same variant has been identified in multiple families from the same populations.; to: The 'founder-effect' tag has been added as the same variant has been identified in multiple families from the same ethnic background.
Corneal dystrophy v4.3 PRDX3 Eleanor Williams commented on gene: PRDX3: The 'founder-effect' tag has been added as the same variant has been identified in multiple families from the same populations.
Corneal dystrophy v4.3 PRDX3 Eleanor Williams Tag founder-effect tag was added to gene: PRDX3.
Corneal dystrophy v4.3 PRDX3 Eleanor Williams changed review comment from: Comment on list classification: There are 5 cases with heterozygous variants in this gene and a corneal dystrophy phenotype. However, the same variant was found in all cases, and all had Spanish ancestry. WES was only performed in one family, with targetted sequencing in the others. Therefore rating Amber until a second variant is found.; to: Comment on list classification: There are 5 cases with heterozygous variants in this gene and a corneal dystrophy phenotype. However, the same variant was found in all cases, and all had Spanish ancestry. WES was only performed in one family, with targetted sequencing in the others. Therefore rating Amber until further supporting evidence is reported, such as functional data, or cases with different ethnicities.
Corneal dystrophy v4.3 PRDX3 Eleanor Williams changed review comment from: Associated with Corneal dystrophy, punctiform and polychromatic pre-Descemet in OMIM (OMIM:619871, AD).

There are 5 cases with the same rare heterozygous missense variant in PRDX3 and punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) although the phenotype is variable. All cases are with Spanish ancestry and 3 of the cases were found to share the same mini-haplotype.

PMID: 31782998 (2020) - 3 previously unreported Spanish families with PPPCD were examined. Through WES and Sanger sequencing 3 heterozygous variants were found to segregate with the disease in family 1 (6 affected, 4 unaffected): PDZD8 c.872+10A>T, OR2M5 c.773T>C, and PRDX3 c.568.G>C. Sanger sequencing of the smaller families 2 and 3 found the same PDZD8 c.872+10A>T and PRDX3 c.568G>C, (p.Asp190His) variants in affected individuals but not the OR2M5 variants. PDZD8 c.872+10A>T was found to affect splicing. An additional 2 families were then examined for these variants - family 4 was found to carry the PRDX3 c.568.G>C variant. No variants in the 3 genes were found in family 5. The same mini-haplotype was identified in the three previously unreported families (PPPCD families 1, 2, and 3) but not in PPPCD family 4, suggesting that the PRDX3 c.568G>C variant likely arose from a common ancestor in PPPCD families 1–3 and independently in PPPCD family 4.
Affected individuals in families 1-4 presented with localization of opacities to the pre-Descemetic posterior stroma. In family 5, affected members presented an atypical PPPCD phenotype with opacities distributed through all levels of the corneal stroma. The authors conclude that since both PRDX3 c.568G>C and PDZD8 c.872+10A>T were identified in PPCD families 1–3 that likely share a common ancestor, but the novel PRDX3 c.568G>C variant was also found in a fourth unrelated PPPCD pedigree, PRDX3 is likely the causative gene for PPPCD.

PMID: 34369396 (2022) 38 year old Spanish woman with bilateral polychromatic deposits diffusely distributed in the posterior stroma of each cornea, just anterior to Descemet membrane, as well as beneath the anterior lens capsule in each eye. Her father was also affected. Sequencing of PRDX3 and PDZD8 identified the heterozygous in the proband revealed the PRDX3 c.568G>C variant but not the PDZD8 c.872+10A>T intronic variant.
Sources: Literature; to: Associated with Corneal dystrophy, punctiform and polychromatic pre-Descemet in OMIM (OMIM:619871, AD).

There are 5 cases with the same rare heterozygous missense variant in PRDX3 and punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) although the phenotype is variable. All cases are with Spanish ancestry and 3 of the cases were found to share the same mini-haplotype.

PMID: 31782998 (2020) - 3 previously unreported Spanish families with PPPCD were examined. Through WES and Sanger sequencing 3 heterozygous variants were found to segregate with the disease in family 1 (6 affected, 4 unaffected): PDZD8 c.872+10A>T, OR2M5 c.773T>C, and PRDX3 c.568.G>C. Sanger sequencing of the smaller families 2 and 3 found the same PDZD8 c.872+10A>T and PRDX3 c.568G>C, (p.Asp190His) variants in affected individuals but not the OR2M5 variants. PDZD8 c.872+10A>T was found to affect splicing. An additional 2 families were then examined for these variants - family 4 was found to carry the PRDX3 c.568.G>C variant. No variants in the 3 genes were found in family 5. The same mini-haplotype was identified in the three previously unreported families (PPPCD families 1, 2, and 3) but not in PPPCD family 4, suggesting that the PRDX3 c.568G>C variant likely arose from a common ancestor in PPPCD families 1–3 and independently in PPPCD family 4.
Affected individuals in families 1-4 presented with localization of opacities to the pre-Descemetic posterior stroma. In family 5, affected members presented an atypical PPPCD phenotype with opacities distributed through all levels of the corneal stroma. The authors conclude that since both PRDX3 c.568G>C and PDZD8 c.872+10A>T were identified in PPCD families 1–3 that likely share a common ancestor, but since the novel PRDX3 c.568G>C variant was also found in a fourth unrelated PPPCD pedigree, PRDX3 is likely the causative gene for PPPCD.

PMID: 34369396 (2022) 38 year old Spanish woman with bilateral polychromatic deposits diffusely distributed in the posterior stroma of each cornea, just anterior to Descemet membrane, as well as beneath the anterior lens capsule in each eye. Her father was also affected. Sequencing of PRDX3 and PDZD8 in the proband revealed the heterozygous PRDX3 c.568G>C variant but not the PDZD8 c.872+10A>T intronic variant.
Sources: Literature
Corneal dystrophy v4.3 PRDX3 Eleanor Williams changed review comment from: Associated with Corneal dystrophy, punctiform and polychromatic pre-Descemet in OMIM (OMIM:619871, AD).

There are 5 cases with the same heterozygous missense variant in PRDX3 and punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) although the phenotype is variable. All cases are with Spanish ancestry and 3 of the cases were found to share the same mini-haplotype.


PMID: 31782998 (2020) - 3 previously unreported Spanish families with PPPCD were examined. Through WES and Sanger sequencing 3 heterozygous variants were found to segregate with the disease in family 1 (6 affected, 4 unaffected): PDZD8 c.872+10A>T, OR2M5 c.773T>C, and PRDX3 c.568.G>C. Sanger sequencing of the smaller families 2 and 3 found the same PDZD8 c.872+10A>T and PRDX3 c.568G>C, (p.Asp190His) variants in affected individuals but not the OR2M5 variants. PDZD8 c.872+10A>T was found to affect splicing. An additional 2 families were then examined for these variants - family 4 was found to carry the PRDX3 c.568.G>C variant. Variants in the 3 genes were not found in family 4. The same mini-haplotype was identified in the three previously unreported families (PPPCD families 1, 2, and 3) but not in PPPCD family 4, suggesting that the PRDX3 c.568G>C variant likely arose from a common ancestor in PPPCD families 1–3 and independently in PPPCD family 4. Affected individuals in families 1-4 presented with localization of opacities to the pre-Descemetic posterior stroma. In family 5, affected members presented an atypical PPPCD phenotype with opacities distributed through all levels of the corneal stroma. The authors conclude that since both PRDX3 c.568G>C and PDZD8 c.872+10A>T were identified in PPCD families 1–3 that likely share a common ancestor, but the novel PRDX3 c.568G>C variant was also found in a fourth unrelated PPPCD pedigree, PRDX3 is likely the causative gene for PPPCD.

PMID: 34369396 (2022) 38 year old Spanish woman with bilateral polychromatic deposits diffusely distributed in the posterior stroma of each cornea, just anterior to Descemet membrane, as well as beneath the anterior lens capsule in each eye. Her father was also affected. Sequencing of PRDX3 and PDZD8 identified the heterozygous in the proband revealed the PRDX3 c.568G>C variant but not the PDZD8 c.872+10A>T intronic variant.
Sources: Literature; to: Associated with Corneal dystrophy, punctiform and polychromatic pre-Descemet in OMIM (OMIM:619871, AD).

There are 5 cases with the same rare heterozygous missense variant in PRDX3 and punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) although the phenotype is variable. All cases are with Spanish ancestry and 3 of the cases were found to share the same mini-haplotype.

PMID: 31782998 (2020) - 3 previously unreported Spanish families with PPPCD were examined. Through WES and Sanger sequencing 3 heterozygous variants were found to segregate with the disease in family 1 (6 affected, 4 unaffected): PDZD8 c.872+10A>T, OR2M5 c.773T>C, and PRDX3 c.568.G>C. Sanger sequencing of the smaller families 2 and 3 found the same PDZD8 c.872+10A>T and PRDX3 c.568G>C, (p.Asp190His) variants in affected individuals but not the OR2M5 variants. PDZD8 c.872+10A>T was found to affect splicing. An additional 2 families were then examined for these variants - family 4 was found to carry the PRDX3 c.568.G>C variant. No variants in the 3 genes were found in family 5. The same mini-haplotype was identified in the three previously unreported families (PPPCD families 1, 2, and 3) but not in PPPCD family 4, suggesting that the PRDX3 c.568G>C variant likely arose from a common ancestor in PPPCD families 1–3 and independently in PPPCD family 4.
Affected individuals in families 1-4 presented with localization of opacities to the pre-Descemetic posterior stroma. In family 5, affected members presented an atypical PPPCD phenotype with opacities distributed through all levels of the corneal stroma. The authors conclude that since both PRDX3 c.568G>C and PDZD8 c.872+10A>T were identified in PPCD families 1–3 that likely share a common ancestor, but the novel PRDX3 c.568G>C variant was also found in a fourth unrelated PPPCD pedigree, PRDX3 is likely the causative gene for PPPCD.

PMID: 34369396 (2022) 38 year old Spanish woman with bilateral polychromatic deposits diffusely distributed in the posterior stroma of each cornea, just anterior to Descemet membrane, as well as beneath the anterior lens capsule in each eye. Her father was also affected. Sequencing of PRDX3 and PDZD8 identified the heterozygous in the proband revealed the PRDX3 c.568G>C variant but not the PDZD8 c.872+10A>T intronic variant.
Sources: Literature
Corneal dystrophy v4.3 PRDX3 Eleanor Williams Classified gene: PRDX3 as Amber List (moderate evidence)
Corneal dystrophy v4.3 PRDX3 Eleanor Williams Added comment: Comment on list classification: There are 5 cases with heterozygous variants in this gene and a corneal dystrophy phenotype. However, the same variant was found in all cases, and all had Spanish ancestry. WES was only performed in one family, with targetted sequencing in the others. Therefore rating Amber until a second variant is found.
Corneal dystrophy v4.3 PRDX3 Eleanor Williams Gene: prdx3 has been classified as Amber List (Moderate Evidence).
Corneal dystrophy v4.2 PRDX3 Eleanor Williams gene: PRDX3 was added
gene: PRDX3 was added to Corneal dystrophy. Sources: Literature
Mode of inheritance for gene: PRDX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRDX3 were set to 31782998; 34369396
Phenotypes for gene: PRDX3 were set to Corneal dystrophy, punctiform and polychromatic pre-Descemet, OMIM:619871; corneal dystrophy, punctiform and polychromatic pre-descemet, MONDO:0859248
Review for gene: PRDX3 was set to AMBER
Added comment: Associated with Corneal dystrophy, punctiform and polychromatic pre-Descemet in OMIM (OMIM:619871, AD).

There are 5 cases with the same heterozygous missense variant in PRDX3 and punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) although the phenotype is variable. All cases are with Spanish ancestry and 3 of the cases were found to share the same mini-haplotype.


PMID: 31782998 (2020) - 3 previously unreported Spanish families with PPPCD were examined. Through WES and Sanger sequencing 3 heterozygous variants were found to segregate with the disease in family 1 (6 affected, 4 unaffected): PDZD8 c.872+10A>T, OR2M5 c.773T>C, and PRDX3 c.568.G>C. Sanger sequencing of the smaller families 2 and 3 found the same PDZD8 c.872+10A>T and PRDX3 c.568G>C, (p.Asp190His) variants in affected individuals but not the OR2M5 variants. PDZD8 c.872+10A>T was found to affect splicing. An additional 2 families were then examined for these variants - family 4 was found to carry the PRDX3 c.568.G>C variant. Variants in the 3 genes were not found in family 4. The same mini-haplotype was identified in the three previously unreported families (PPPCD families 1, 2, and 3) but not in PPPCD family 4, suggesting that the PRDX3 c.568G>C variant likely arose from a common ancestor in PPPCD families 1–3 and independently in PPPCD family 4. Affected individuals in families 1-4 presented with localization of opacities to the pre-Descemetic posterior stroma. In family 5, affected members presented an atypical PPPCD phenotype with opacities distributed through all levels of the corneal stroma. The authors conclude that since both PRDX3 c.568G>C and PDZD8 c.872+10A>T were identified in PPCD families 1–3 that likely share a common ancestor, but the novel PRDX3 c.568G>C variant was also found in a fourth unrelated PPPCD pedigree, PRDX3 is likely the causative gene for PPPCD.

PMID: 34369396 (2022) 38 year old Spanish woman with bilateral polychromatic deposits diffusely distributed in the posterior stroma of each cornea, just anterior to Descemet membrane, as well as beneath the anterior lens capsule in each eye. Her father was also affected. Sequencing of PRDX3 and PDZD8 identified the heterozygous in the proband revealed the PRDX3 c.568G>C variant but not the PDZD8 c.872+10A>T intronic variant.
Sources: Literature
Corneal dystrophy v4.1 Sarah Leigh Panel version 4.0 has been signed off on 2025-04-30
Corneal dystrophy v4.0 Sarah Leigh promoted panel to version 4.0
Corneal dystrophy v3.13 TCF4_CTG Sarah Leigh STR: TCF4_CTG was added
STR: TCF4_CTG was added to Corneal dystrophy. Sources: Literature
STR, NGS Not Validated tags were added to STR: TCF4_CTG.
Mode of inheritance for STR: TCF4_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for STR: TCF4_CTG were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321
Phenotypes for STR: TCF4_CTG were set to Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267; corneal dystrophy, Fuchs endothelial, 3, MONDO:0013203
Review for STR: TCF4_CTG was set to GREEN
Added comment: TCF4 transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence.

TCF4_CTG is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4

TCF4_CTG is on https://stripy.org/database

TCF4_CTG is on DRAGON 4.02.

The coordinates of the sequence repeats shown above were obtained from DRAGON 4.02
The coordinates https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 and https://stripy.org/database were the same as above.

The non-pathogenic and pathogenic ranges of the sequence repeats shown above were obtained from: https://stripy.org/database

There is enough evidence for this STR to be green on this panel.

This STR has not been approved by NHS STR working group and is not NGS Not Validated
Sources: Literature
Corneal dystrophy v3.12 LTBP2 Eleanor Williams Tag Q4_23_promote_green was removed from gene: LTBP2.
Corneal dystrophy v3.12 LTBP2 Eleanor Williams reviewed gene: LTBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Corneal dystrophy v3.11 LTBP2 Eleanor Williams Source NHS GMS was added to LTBP2.
Source Expert Review Green was added to LTBP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Corneal dystrophy v3.10 MIR184 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR184.
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