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5 records shown · first 60Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene.
PMID 31323129 | DOI 10.1111/ced.14046 · Clinical and experimental dermatology · 2020 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.1A>G | “RESULTS: Analysis of the exome data revealed a start loss sequence variant (c.1A>G, p.M1?) in DCAF17.” | 0.95 | hgvs_regex_v1 |
| gene | DCAF17 | “Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “The syndrome presents prominent clinical features, including alopecia, neuroendocrine defects, neurological findings and progressive hearing loss.” | 0.98 | phenotype_alias_lexicon_v2 |
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
PMID 29383837 | DOI 10.1002/ajmg.a.38615 · American journal of medical genetics. Part A · 2018 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.1A>G | “After we initially mapped the disease to C12orf57, we noted a high carrier frequency of an ancient startloss founder mutation [c.1A>G; p.M1?] in our population, and variable phenotypic expressivity in newly identified cases.” | 0.95 | hgvs_regex_v1 |
| gene | C12orf57 | “After we initially mapped the disease to C12orf57, we noted a high carrier frequency of an ancient startloss founder mutation [c.1A>G; p.M1?] in our population, and variable phenotypic expressivity in newly identified cases.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum.” | 0.98 | phenotype_alias_lexicon_v2 |
Multimodal imaging in CABP4-related retinopathy.
PMID 28635425 | DOI 10.1080/13816810.2017.1289543 · Ophthalmic genetics · 2017 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.1A>G | “RESULTS: Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous mutation c.1A>G (p.Met1?) in CABP4 were examined.” | 0.95 | hgvs_regex_v1 |
| gene | CABP4 | “RESULTS: Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous mutation c.1A>G (p.Met1?) in CABP4 were examined.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “RESULTS: Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous mutation c.1A>G (p.Met1?) in CABP4 were examined.” | 0.95 | saudi_context_rules_v1 |
| variant | c.81_82insA | “RESULTS: Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous mutation c.1A>G (p.Met1?) in CABP4 were examined.” | 0.95 | hgvs_regex_v1 |
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.
PMID 23453665 | PMCID PMC3591839 | DOI 10.1016/j.ajhg.2013.01.008 · American journal of human genetics · 2013 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.1A>G | “We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphthalmia is associated with profound global developmental delay, intractable seizures, and corpus callosum abnormalities, and we identified a homozygous truncating mutation in C12orf57 [c.1A>G; p.Met1?].” | 0.95 | hgvs_regex_v1 |
| gene | C12orf57 | “We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphthalmia is associated with profound global developmental delay, intractable seizures, and corpus callosum abnormalities, and we identified a homozygous truncating mutation in C12orf57 [c.1A>G; p.Met1?].” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphthalmia is associated with profound global developmental delay, intractable seizures, and corpus callosum abnormalities, and we identified a homozygous truncating mutation in C12orf57 [c.1A>G; p.Met1?].” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphthalmia is associated with profound global developmental delay, intractable seizures, and corpus callosum abnormalities, and we identified a homozygous truncating mutation in C12orf57 [c.1A>G; p.Met1?].” | 0.93 | phenotype_alias_lexicon_v2 |
A newly recognized autosomal recessive syndrome affecting neurologic function and vision.
PMID 23633300 | DOI 10.1002/ajmg.a.35850 · American journal of medical genetics. Part A · 2013 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.1A>G | “A potentially deleterious nucleotide change (c.1A>G; p.Met1Val) in the C12orf57 gene was homozygous in all affected individuals, heterozygous in the parents, and absent in an unaffected sibling and >350 normal individuals.” | 0.95 | hgvs_regex_v1 |
| gene | C12orf57 | “A potentially deleterious nucleotide change (c.1A>G; p.Met1Val) in the C12orf57 gene was homozygous in all affected individuals, heterozygous in the parents, and absent in an unaffected sibling and >350 normal individuals.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Genetic factors represent an important etiologic group in the causation of intellectual disability.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “The four individuals (aged 18, 16, 13, and 2 years when last examined) had motor and cognitive delay with seizures in early childhood, and three of the four (sparing only the youngest child) had progressive, severe cognitive decline with spasticity.” | 0.93 | phenotype_alias_lexicon_v2 |