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    De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
    2
    1. ClingenBaseline 21 Oct 2026
      subject 10

      Case# Subject 10, female, 14yo, non-Hispanic

      CasePresentingHPOs HP:0010535, HP:0002098, HP:0031064, HP:0000729, HP:0000750, HP:0001249, (Sleep apnea, Difficulty breathing, Impaired continence, Autism spectrum disorder, Speech delay, Intellectual disability)

      HPOFreeText: Phenotypes described postnatally.

      CaseNotHPOs HP:0001250, HP:0001252, HP:0000708, HP:0001285, HP:0007018, HP:0011968, HP:0000589, HP:0000648, HP:0000568, HP:0000659, HP:0000525, HP:0000581, HP:0000407, HP:0000453, HP:0410030, HP:0001629, HP:0001655, HP:0001643, HP:0010772, HP:0002020, HP:0002247, HP:0001734, HP:0002021, HP:0000076, HP:0000107, HP:0001159, HP:0001385, HP:0002650, HP:0002938, HP:0001511, HP:0011328, HP:0002007, HP:0000325, HP:0000534, HP:0000601, HP:0000316, HP:0000582, HP:0000494, HP:0045025, HP:0000286, HP:0000490, HP:0000598, HP:0004467, HP:0000414, HP:0000463, HP:0000319, HP:0012471, HP:0000160, HP:0000221, HP:0000164, HP:0000187, HP:0000218, HP:0000347, HP:0002557, HP:0003186, HP:0200055, HP:0004209, HP:0011297, HP:0001792, HP:0010490, HP:0000349, HP:0004532, HP:0000957 (Seizures, Hypotonia, Behavioral problems, Spastic quadriparesis, ADHD, Poor feeding, Coloboma, Optic atrophy, Microphthalmia, Peter's anomaly, Iris anomalies, Blepharophimosis, Sensorineural hearing loss, Choanal atresia, Cleft lip, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Anomalous pulmonary venous return, Gastroesophageal reflux, Duodenal atresia, Annular pancreas, Pyloric stenosis, Vesicoureteral reflux, Cystic kidney, Syndactyly, Hip dysplasia, Scoliosis, Lumbar lordosis, Intrauterine growth retardation, Fontanel abnormality, Frontal bossing, Triangular face, Abnormal eyebrows, Hypotelorism, Hypertelorism, Upslanting palpebral fissures, Down-slanting palpebral fissures, Small palpebral fissures, Epicanthal folds, Deeply set eyes, Abnormal ears, Preauricular pits, Bulbous nose, Anteverted nares, Flat philtrum, Full lips, Small mouth, Furrowed tongue, Abnormal teeth, Broad alveolar ridges, High-arched palate, Micrognathia, Small nipples, Inverted nipples, Small hands, 5th finger clinodactyly, Digital Anomalies, Nail hypoplasia, Abnormal palmar creases, Widow's peak, Sacral hypertrichosis, Café Au Lait spots)

      CasePreviousTesting Screen for variants involved with Autism, de novo RERE variant was only result

      CaseMethod1 Exome sequencing

      CaseMethod2 sanger

      CaseGenotypingMethod exome sequencing confirmed with sanger in patient and parents by Krumm et al.

      Variant NM_012102.3:c.2278C>T(p.Gln760Ter), de novo

      ClinVar n/a

      CAID CA338172916

      gnomAD n/a

      VariantEvidence n/a

      CaseAddInfo both parents tested

      CasePMIDs 25961944

      Case CaseInfo Individual inferred_gene_hgnc:9965 inferred_gene_source:CAID UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      subject 10

      Case# Subject 10, female, 14yo, non-Hispanic

      CasePresentingHPOs HP:0010535, HP:0002098, HP:0031064, HP:0000729, HP:0000750, HP:0001249, (Sleep apnea, Difficulty breathing, Impaired continence, Autism spectrum disorder, Speech delay, Intellectual disability)

      HPOFreeText: Phenotypes described postnatally.

      CaseNotHPOs HP:0001250, HP:0001252, HP:0000708, HP:0001285, HP:0007018, HP:0011968, HP:0000589, HP:0000648, HP:0000568, HP:0000659, HP:0000525, HP:0000581, HP:0000407, HP:0000453, HP:0410030, HP:0001629, HP:0001655, HP:0001643, HP:0010772, HP:0002020, HP:0002247, HP:0001734, HP:0002021, HP:0000076, HP:0000107, HP:0001159, HP:0001385, HP:0002650, HP:0002938, HP:0001511, HP:0011328, HP:0002007, HP:0000325, HP:0000534, HP:0000601, HP:0000316, HP:0000582, HP:0000494, HP:0045025, HP:0000286, HP:0000490, HP:0000598, HP:0004467, HP:0000414, HP:0000463, HP:0000319, HP:0012471, HP:0000160, HP:0000221, HP:0000164, HP:0000187, HP:0000218, HP:0000347, HP:0002557, HP:0003186, HP:0200055, HP:0004209, HP:0011297, HP:0001792, HP:0010490, HP:0000349, HP:0004532, HP:0000957 (Seizures, Hypotonia, Behavioral problems, Spastic quadriparesis, ADHD, Poor feeding, Coloboma, Optic atrophy, Microphthalmia, Peter's anomaly, Iris anomalies, Blepharophimosis, Sensorineural hearing loss, Choanal atresia, Cleft lip, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Anomalous pulmonary venous return, Gastroesophageal reflux, Duodenal atresia, Annular pancreas, Pyloric stenosis, Vesicoureteral reflux, Cystic kidney, Syndactyly, Hip dysplasia, Scoliosis, Lumbar lordosis, Intrauterine growth retardation, Fontanel abnormality, Frontal bossing, Triangular face, Abnormal eyebrows, Hypotelorism, Hypertelorism, Upslanting palpebral fissures, Down-slanting palpebral fissures, Small palpebral fissures, Epicanthal folds, Deeply set eyes, Abnormal ears, Preauricular pits, Bulbous nose, Anteverted nares, Flat philtrum, Full lips, Small mouth, Furrowed tongue, Abnormal teeth, Broad alveolar ridges, High-arched palate, Micrognathia, Small nipples, Inverted nipples, Small hands, 5th finger clinodactyly, Digital Anomalies, Nail hypoplasia, Abnormal palmar creases, Widow's peak, Sacral hypertrichosis, Café Au Lait spots)

      CasePreviousTesting Screen for variants involved with Autism, de novo RERE variant was only result

      CaseMethod1 Exome sequencing

      CaseMethod2 sanger

      CaseGenotypingMethod exome sequencing confirmed with sanger in patient and parents by Krumm et al.

      Variant NM_012102.3:c.2278C>T(p.Gln760Ter), de novo

      ClinVar n/a

      CAID CA338172916

      gnomAD n/a

      VariantEvidence n/a

      CaseAddInfo both parents tested

      CasePMIDs 25961944

      Case CaseInfo Individual inferred_gene_hgnc:9965 inferred_gene_source:CAID UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC4863473/