Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.13 | GRHL2 | Ida Ertmanska Publications for gene: GRHL2 were set to PMID:12393799; 20938050; 21610158; 23813623; 25152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.12 | GRHL2 | Ida Ertmanska edited their review of gene: GRHL2: Changed publications to: 12393799, 23813623, 25152456, 27612988, 27911912, 32048449 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.12 | GRHL2 |
Ida Ertmanska changed review comment from: PMID: 25152456 Petros et al., 2013 2 consanguineous Kuwaiti families with 6 total affected individuals with ectodermal dysplasia. Shared features: nail dystrophy or nail loss, marginal palmoplantar keratoderma, hypodontia, enamel hypoplasia, oral hyperpigmentation, short stature (≤25th percentile), and dysphagia. Patients in family ED-01 also presented with sensorineural deafness. ED-01 members were homozygous for GRHL2 c.1192T>C (p.Tyr398His), and ED-02 were homozygous for c.1445T>A (p.Ile482Lys). PMID: 27612988 Walne et al., 2016 Report of 2 consanguineous families from Kuwait and Turkey. Family 9: index patient homozygous for GRHL2 c.1445T>A p.Ile482Lys Family 10: index patient homozygous for GRHL2 c.1213C>A p.Pro405Thr Shared phenotype of the 2 probands: abnormal dentition, nail dystrophy, abnormal skin pigmentation, growth restriction (short stature). No mention of hearing loss.; to: BIALLELIC CASES: PMID: 25152456 Petros et al., 2013 2 consanguineous Kuwaiti families with 6 total affected individuals with ectodermal dysplasia. Shared features: nail dystrophy or nail loss, marginal palmoplantar keratoderma, hypodontia, enamel hypoplasia, oral hyperpigmentation, short stature (≤25th percentile), and dysphagia. Patients in family ED-01 also presented with sensorineural deafness. ED-01 members were homozygous for GRHL2 c.1192T>C (p.Tyr398His), and ED-02 were homozygous for c.1445T>A (p.Ile482Lys). PMID: 27612988 Walne et al., 2016 Report of 2 consanguineous families from Kuwait and Turkey. Family 9: index patient homozygous for GRHL2 c.1445T>A p.Ile482Lys Family 10: index patient homozygous for GRHL2 c.1213C>A p.Pro405Thr Shared phenotype of the 2 probands: abnormal dentition, nail dystrophy, abnormal skin pigmentation, growth restriction (short stature). No mention of hearing loss. MONOALLELIC CASES: PMID: 12393799 Peters et al., 2002 Large American family with an autosomal dominant form of progressive non-syndromic sensorineural hearing loss. Variant c.1609-1610insC in GRHL2 (old name TFCP2L3) segregated with hearing loss. PMID: 23813623 Vona et al., 2013 Large pedigree with post-lingual hearing loss with a highly variable age of onset and progression - segregated with a heterozygous non-classical splice site mutation in GRHL2: c.1258-1G>A, p.Gly420Glufs*111. PMID: 27911912 Iwasa et al., 2016 3 Japanese families with AD hearing loss and heterozygous GRHL2 variants (2 missense, 1 frameshift) PMID: 32048449 Wu et al., 2020 Han Chinese family with AD non-syndromic deafness, a het GRHL2 p.R426X variant segregated with hearing loss. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.12 | GRHL2 | Ida Ertmanska commented on gene: GRHL2: Comment on mode of inheritance: While there are several individuals reported with monoallelic GRHL2 variants and hearing loss, only 1/4 families reported with biallelic variants presented with hearing loss. Hence, the MOI for Monogenic hearing loss should be changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.12 | GRHL2 | Ida Ertmanska Tag Q2_26_MOI tag was added to gene: GRHL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.12 | GRHL2 | Ida Ertmanska reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152456, 27612988; Phenotypes: Ectodermal dysplasia/short stature syndrome, OMIM:616029; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.239 | GRHL2 | Arina Puzriakova Phenotypes for gene: GRHL2 were changed from hearing loss; Deafness, autosomal dominant 28, 608641; #616029: Ectodermal dysplasia/short stature syndrome to Deafness, autosomal dominant 28, OMIM:608641; Ectodermal dysplasia/short stature syndrome, OMIM:616029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.43 | GRHL2 | Ellen McDonagh commented on gene: GRHL2: New review confirms gene status and mode of inheritance; no changes required. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss | GRHL2 | Lampros Mavrogiannis reviewed GRHL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||