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| Ichthyosis and erythrokeratoderma v1.66 | GJA1 |
Arina Puzriakova changed review comment from: Comment on mode of inheritance: MOI was set to 'both mono- and biallelic' in 2017 as PPK has been observed in some patients with oculodentodigital dysplasia (ODDD). Although GJA1-related ODDD can be dominantly (MIM:164200) or recessively (MIM:257850) inherited, of the 3 unrelated families published to date with confirmed recessive ODDD (PMID: 14981729, 16816024, 29902798) none have reported dermal abnormalities. However, it is possible that these may have been overlooked in the context of other more prominent features of the disorder. Notably, heterozygous variants are also associated with other relevant phenotypes (MIM: 617525 & 104100) GJA1 will be flagged for GMS expert review to determine whether the MOI should be changed on this panel (tagged).; to: Comment on mode of inheritance: MOI should be changed from 'both mono- and biallelic' to 'monoallelic' only at the next GMS panel update. GJA1 was imported to this panel from the 'Palmoplantar keratoderma and erythrokeratodermas' 100K panel and the MOI reflects the mixed inheritance pattern associated with GJA1 oculodentodigital dysplasia (ODDD) (dominant - MIM:164200; recessive - MIM:257850) which can manifest with PPK. Following the uncoupling of PPK and erythrokeratodermas into two separate GMS panels (R165 & R166), only monoallelic variants remain relevant to this particular panel. Monoallelic variants can cause erythrokeratodermia variabilis et progressiva 3 (MIM: 617525). Erythematous palms and soles have also been described in cases of GJA1-related palmoplantar keratoderma (MIM:104100), also associated with heterozygous variants. |
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| Ichthyosis and erythrokeratoderma v1.23 | ENPP1 | Ivone Leong Phenotypes for gene: ENPP1 were changed from Cole disease, 615522 (includes punctate palmoplantar keratoderma) to Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.11 | ALOX12B | Ivone Leong Phenotypes for gene: ALOX12B were changed from Nonbullous congenital ichthyosiform erythroderma (NBCIE); Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma) to congenital non-bullous ichthyosiform erythroderma, MONDO:0019306; Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.3 | ENPP1 |
Ellen McDonagh gene: ENPP1 was added gene: ENPP1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: ENPP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ENPP1 were set to 26617416; 24075184; 19380683 Phenotypes for gene: ENPP1 were set to Cole disease, 615522 (includes punctate palmoplantar keratoderma) |
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| Ichthyosis and erythrokeratoderma v0.3 | DES |
Ellen McDonagh gene: DES was added gene: DES was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DES were set to Striate keratoderma with woolly hair; Cardiomyopathy, dilated, 1I |
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| Ichthyosis and erythrokeratoderma v0.3 | ALOX12B |
Ellen McDonagh gene: ALOX12B was added gene: ALOX12B was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALOX12B were set to 11773004; 17139268; 19890349; 16116617 Phenotypes for gene: ALOX12B were set to Nonbullous congenital ichthyosiform erythroderma (NBCIE); Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma) |
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