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2 records shown · first 60Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy.
PMID 39304031 | DOI 10.1016/j.jaapos.2024.104007 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2024 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Glu664Lys | “All carried the same homozygous missense IFT140 mutation (c.1990G>A; p.Glu664Lys) except for a single family, which included 4 affected subjects, 3 of whom were aborted fetuses, with compound heterozygous pathogenic IFT140 variants (c.1525-1G>A and c.1990G>A; p.Glu664Lys).” | 0.95 | hgvs_regex_v1 |
| gene | IFT140 | “Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | renal failure | “All affected individuals had skeletal abnormalities, and neurological abnormalities were common, but there was no evidence of chronic renal failure.” | 0.98 | phenotype_alias_lexicon_v2 |
The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.
PMID 26359340 | DOI 10.1136/bjophthalmol-2015-307555 · The British journal of ophthalmology · 2016 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Glu664Lys | “All were homozygous for the same IFT140 mutation (c.1990G>A; p.Glu664Lys) except one who was homozygous for c.1541_1542delinsAA.” | 0.95 | hgvs_regex_v1 |
| gene | IFT140 | “BACKGROUND: Conorenal syndrome is a systemic skeletal ciliopathy characterised by skeletal and renal findings and caused by biallelic mutations in the gene intraflagellar transport 140 Chlamydomonas homologue (IFT140).” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “Eight children had developmental delay, two had short stubby fingers, and one had renal disease, but four had no evident extraocular disease, including one aged 18 years who also had two older affected siblings in their twenties who remained non-syndromic and were excelling academically.” | 0.98 | phenotype_alias_lexicon_v2 |