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| Monogenic hearing loss v6.46 | YARS |
Ida Ertmanska changed review comment from: PMID: 38125821 Kuan et al., 2023 Report of a Hispanic individual with dysmorphic facies and neurological issues. Admitted in the neonatal period due to seizure-like activity, vomiting, and poor feeding. Brain MRI yielded no significant findings. An abdominal ultrasound revealed an echogenic liver. He had hearing loss in his left ear. Subsequently diagnosed with microcephaly, hypotonia, nystagmus, and significant developmental delays. A microarray conducted shortly after birth revealed 47, XXY. WES uncovered a paternally inherited YARS: c.1099C > T, p.Arg367Trp variant & a maternally inherited YARS: c.782T > G, p.Leu261Arg. Father has history of hearing loss and neurological symptoms; mother was unaffected. PMID: 34536092 Averdunk et al., 2021 Study identified 12 individuals from 6 families with the recurrent homozygous missense variant c.1099C > T;p.(Arg367Trp) in YARS. Patients presented with a multisystem disorder with developmental delay (12/12), microcephaly (12/12), failure to thrive, short stature, muscular hypotonia (9/12), ataxia, brain anomalies, microcytic anemia (8/8 assessed), hepatomegaly (7/7 assessed), and hypothyroidism. Seq method: exome sequencing. Haplotype analysis showed that the haplotype of individuals originating from Saudi Arabia (C-I) differs from the haplotypes of individuals A + B (from Turkey) and L (from Puerto Rico) - supportive of a recurrent rather than a founder variant. 2 unrelated individuals had hearing loss. PMID 30304524 Williams et al., 2019 Report of 7 related Amish children homozygous for YARS, c.499C>A, p.Pro167Thr (seq method: WES). Phenotype: poor growth, developmental delay, brain dysmyelination, sensorineural hearing loss, nystagmus, progressive cholestatic liver disease, pancreatic insufficiency, hypoglycemia, anemia, intermittent proteinuria, recurrent bloodstream infections and chronic pulmonary disease. Bilateral sensorineural hearing loss and cholestatic liver disease were present in 7/7 affected individuals. Related adult het carriers were asymptomatic. PMID: 29232904 Tracewska-Siemiątkowska et al., 2017 Report of a Swedish proband homozygous for YARS: c.806T>C, p.(F269S). Method: Trio WES. Phenotype of the proband: progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. Het parents unaffected.; to: PMID: 38125821 Kuan et al., 2023 Report of a Hispanic individual with dysmorphic facies and neurological issues. Admitted in the neonatal period due to seizure-like activity, vomiting, and poor feeding. Brain MRI yielded no significant findings. An abdominal ultrasound revealed an echogenic liver. He had hearing loss in his left ear. Subsequently diagnosed with microcephaly, hypotonia, nystagmus, and significant developmental delays. Laboratory tests indicated anemia. A microarray conducted shortly after birth revealed 47, XXY. WES uncovered a paternally inherited YARS: c.1099C > T, p.Arg367Trp variant & a maternally inherited YARS: c.782T > G, p.Leu261Arg. Father has history of hearing loss and neurological symptoms; mother was unaffected. PMID: 34536092 Averdunk et al., 2021 Study identified 12 individuals from 6 families with the recurrent homozygous missense variant c.1099C > T;p.(Arg367Trp) in YARS. Patients presented with a multisystem disorder with developmental delay (12/12), microcephaly (12/12), failure to thrive, short stature, muscular hypotonia (9/12), ataxia, brain anomalies, microcytic anemia (8/8 assessed), hepatomegaly (7/7 assessed), and hypothyroidism. Seq method: exome sequencing. Haplotype analysis showed that the haplotype of individuals originating from Saudi Arabia (C-I) differs from the haplotypes of individuals A + B (from Turkey) and L (from Puerto Rico) - supportive of a recurrent rather than a founder variant. 2 unrelated individuals had hearing loss. PMID 30304524 Williams et al., 2019 Report of 7 related Amish children homozygous for YARS, c.499C>A, p.Pro167Thr (seq method: WES). Phenotype: poor growth, developmental delay, brain dysmyelination, sensorineural hearing loss, nystagmus, progressive cholestatic liver disease, pancreatic insufficiency, hypoglycemia, anemia, intermittent proteinuria, recurrent bloodstream infections and chronic pulmonary disease. Bilateral sensorineural hearing loss and cholestatic liver disease were present in 7/7 affected individuals. Related adult het carriers were asymptomatic. PMID: 29232904 Tracewska-Siemiątkowska et al., 2017 Report of a Swedish proband homozygous for YARS: c.806T>C, p.(F269S). Method: Trio WES. Phenotype of the proband: progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. Het parents unaffected. |
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| Monogenic hearing loss v6.46 | YARS | Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 8th Oct 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.46 | YARS | Ida Ertmanska Phenotypes for gene: YARS were changed from Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, OMIM:619418; neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2, MONDO:0030375; hearing loss disorder, MONDO:0005365 to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, OMIM:619418; neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2, MONDO:0030375; hearing loss disorder, MONDO:0005365 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.45 | YARS | Ida Ertmanska commented on gene: YARS: Comment on list classification: There are now at least 5 unrelated probands reported in literature with biallelic YARS (new name YARS1) variants and a multisystem disorder including hearing loss. Hence, this gene can be promoted to Green on Monogenic hearing loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.45 | YARS | Ida Ertmanska Phenotypes for gene: YARS were changed from Charcot-Marie-Tooth disease, dominant intermediate C 608323; Intellectual disability; deafness; nystagmus; liver dysfunction to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, OMIM:619418; neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2, MONDO:0030375; hearing loss disorder, MONDO:0005365 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.44 | YARS | Ida Ertmanska Publications for gene: YARS were set to 30304524; 29232904; 27633801 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.43 | YARS |
Ida Ertmanska Tag watchlist was removed from gene: YARS. Tag Q4_26_promote_green tag was added to gene: YARS. |
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| Monogenic hearing loss v6.43 | YARS | Ida Ertmanska edited their review of gene: YARS: Changed phenotypes to: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, OMIM:619418, neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2, MONDO:0030375 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.43 | YARS | Ida Ertmanska edited their review of gene: YARS: Changed publications to: 29232904, 30304524, 34536092, 38125821; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v6.43 | YARS | Ida Ertmanska reviewed gene: YARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, OMIM:619418; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.40 | YARS | Sarah Leigh commented on gene: YARS: The new gene for YARS is YARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.40 | YARS | Sarah Leigh Tag watchlist tag was added to gene: YARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.40 | YARS | Sarah Leigh Classified gene: YARS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.40 | YARS | Sarah Leigh Gene: yars has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.39 | YARS | Sarah Leigh Added comment: Comment on phenotypes: Monoallelic variants are associated with Charcot-Marie-Tooth disease, dominant intermediate C 608323, while biallelic variants are associated with a complex phenotype that may include intellectual disability, hearing loss and liver damage. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.39 | YARS | Sarah Leigh Phenotypes for gene: YARS were changed from Charcot-Marie-Tooth disease, dominant intermediate C 608323; Intellectual disability; deafness; nystagmus; liver dysfunction to Charcot-Marie-Tooth disease, dominant intermediate C 608323; Intellectual disability; deafness; nystagmus; liver dysfunction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.38 | YARS |
Sarah Leigh gene: YARS was added gene: YARS was added to Hearing loss. Sources: Literature new-gene-name tags were added to gene: YARS. Mode of inheritance for gene: YARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YARS were set to 30304524; 29232904; 27633801 Phenotypes for gene: YARS were set to Charcot-Marie-Tooth disease, dominant intermediate C 608323; Intellectual disability; deafness; nystagmus; liver dysfunction Review for gene: YARS was set to AMBER Added comment: Biallelic variants in three families with complex clinical conditions including developmental delay. PMID 30304524 reports an extended family with microcephaly, expressive language delay, hearing loss, amongst other features. PMID 29232904 reports a proband whose phenotype included hearing loss, retnititis pigmentosa and hypotonia, but did not include intellectual disability. PMID 27633801 reports two sibblings with hypotionia, the older brother at 15 years of age has mild delays, he attends school on an individualized educational program and functions at a grade 3 level, but not hearing loss was reported. Sources: Literature |
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