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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). |
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| 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). |
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| 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). |
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| 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 |
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