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| Monogenic hearing loss v5.39 | PTRH2 | Achchuthan Shanmugasundram Classified gene: PTRH2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.39 | PTRH2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least eight unrelated families with IMNEPD presented with sensorineural hearing loss as part of the phenotype. Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.39 | PTRH2 | Achchuthan Shanmugasundram Gene: ptrh2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.38 | PTRH2 | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: PTRH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.38 | PTRH2 |
Achchuthan Shanmugasundram changed review comment from: PMID:25574476 (2014) reported a consanguineous family of Yazidian-Turkish descent infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). The two affected children presented with intellectual disability, postnatal microcephaly, growth retardation, progressive ataxia, distal muscle weakness, peripheral demyelinating sensorimotor neuropathy, sensorineural deafness, exocrine pancreas insufficiency, hypothyroidism, and show signs of liver fibrosis. They were identified with a homozygous frameshift variant in PTRH2 gene. PMID:25558065 (2015) reported a patient with global developmental delay, hearing loss, and ataxia and was identified with a homozygous missense variant PTRH2 gene. PMID:27129381 (2016) reported the identification of a different homozygous missense variant in five further IMNEPD patients from two different families of Tunisian and Saudi Arabian descent. Sensorineural hearing impairment was present in all five reported patients. PMID:31057140 (2019) reported three brothers of Syrian descent with a novel homozygous stop-gain variant in PTRH2 gene presenting with IMNEPD. All three had hearing loss. This gene has been associated with IMNEPD in OMIM (MIM #616263, OMIM accessed on 24 October 2025), which includes sensorineural deafness as one of the clinical manifestations. Sources: Literature; to: PMID:25574476 (2014) reported a consanguineous family of Yazidian-Turkish descent infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). The two affected children presented with intellectual disability, postnatal microcephaly, growth retardation, progressive ataxia, distal muscle weakness, peripheral demyelinating sensorimotor neuropathy, sensorineural deafness, exocrine pancreas insufficiency, hypothyroidism, and show signs of liver fibrosis. They were identified with a homozygous frameshift variant in PTRH2 gene. PMID:25558065 (2015) reported a patient with global developmental delay, hearing loss, and ataxia and was identified with a homozygous missense variant PTRH2 gene. PMID:27129381 (2016) reported the identification of a different homozygous missense variant in five further IMNEPD patients from two different families of Tunisian and Saudi Arabian descent. Sensorineural hearing impairment was present in all five reported patients. PMID:31057140 (2019) reported three brothers of Syrian descent with a novel homozygous stop-gain variant in PTRH2 gene presenting with IMNEPD. All three had hearing loss. This gene has been associated with IMNEPD in OMIM (MIM #616263, OMIM accessed on 24 October 2025), which includes sensorineural deafness as one of the clinical manifestations. This gene is also associated with relevant phenotypes on the DD panel of Gene2Phenotype with 'definitive' rating. Sources: Literature |
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| Monogenic hearing loss v5.38 | PTRH2 |
Achchuthan Shanmugasundram gene: PTRH2 was added gene: PTRH2 was added to Monogenic hearing loss. Sources: Literature Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRH2 were set to 25574476; 25558065; 27129381; 31057140 Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263; neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012 Review for gene: PTRH2 was set to GREEN Added comment: PMID:25574476 (2014) reported a consanguineous family of Yazidian-Turkish descent infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). The two affected children presented with intellectual disability, postnatal microcephaly, growth retardation, progressive ataxia, distal muscle weakness, peripheral demyelinating sensorimotor neuropathy, sensorineural deafness, exocrine pancreas insufficiency, hypothyroidism, and show signs of liver fibrosis. They were identified with a homozygous frameshift variant in PTRH2 gene. PMID:25558065 (2015) reported a patient with global developmental delay, hearing loss, and ataxia and was identified with a homozygous missense variant PTRH2 gene. PMID:27129381 (2016) reported the identification of a different homozygous missense variant in five further IMNEPD patients from two different families of Tunisian and Saudi Arabian descent. Sensorineural hearing impairment was present in all five reported patients. PMID:31057140 (2019) reported three brothers of Syrian descent with a novel homozygous stop-gain variant in PTRH2 gene presenting with IMNEPD. All three had hearing loss. This gene has been associated with IMNEPD in OMIM (MIM #616263, OMIM accessed on 24 October 2025), which includes sensorineural deafness as one of the clinical manifestations. Sources: Literature |
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