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| Ichthyosis and erythrokeratoderma v2.10 | SREBF1 | Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: SREBF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v2.10 | SREBF1 | Achchuthan Shanmugasundram Phenotypes for gene: SREBF1 were changed from IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome to Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221; Hereditary mucoepithelial dysplasia, MIM# 158310, MONDO:0008017 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v2.9 | SREBF1 | Achchuthan Shanmugasundram Publications for gene: SREBF1 were set to 32497488 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v2.8 | SREBF1 | Achchuthan Shanmugasundram Classified gene: SREBF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v2.8 | SREBF1 | Achchuthan Shanmugasundram Gene: srebf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v2.7 | SREBF1 | Achchuthan Shanmugasundram reviewed gene: SREBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31790666, 32497488, 32902915, 33253727, 33742461; Phenotypes: Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221, Hereditary mucoepithelial dysplasia, MIM# 158310, MONDO:0008017; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.3 | SREBF1 |
Zornitza Stark gene: SREBF1 was added gene: SREBF1 was added to Ichthyosis and erythrokeratoderma. Sources: Literature Mode of inheritance for gene: SREBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SREBF1 were set to 32497488 Phenotypes for gene: SREBF1 were set to IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome Review for gene: SREBF1 was set to GREEN Added comment: 11 unrelated, ethnically diverse individuals with autosomal-dominant IFAP syndrome. 3 different msisense variants identified affecting the same region (residues 527, 528, and 530). Functional studies support impaired function (impaired nuclear translocation of the transcriptionally active form of SREBP1 resulting in lower expression of the SREBP1 variants). Increased keratinocyte apoptosis was observed in patient scalp samples. Sources: Literature |
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