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| Paediatric disorders - additional genes v8.34 | KCNJ8 | Achchuthan Shanmugasundram Phenotypes for gene: KCNJ8 were changed from Hypertrichotic osteochondrodysplasia (Cantu syndrome) (OMIM 239850); hypertrichotic osteochondrodysplasia Cantu type (MONDO:0009406) to hypertrichotic osteochondrodysplasia Cantu type, MONDO:0009406 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.33 | KCNJ8 | Luke Stuart edited their review of gene: KCNJ8: Changed phenotypes to: hypertrichotic osteochondrodysplasia Cantu type (MONDO:0009406) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.33 | KCNJ8 |
Luke Stuart changed review comment from: Four unrelated patents with Cantu syndrome and de novo missense KCNJ8 variants have been reported in the literature. Cantu syndrome is also, more frequently, associated with monoallelic ABCC9 variants. Recurrent features, consistent with ABCC9-related Cantu syndrome include generalised hypertrichosis, coarse facial appearance/ facial dysmorphism, macrosomia, and Osteochondrodysplasia. PMID 24176758: de novo KCNJ8 c.193G>A p.(Val65Met), identified by trio exome sequencing after exclusion of ABCC9 variants. Reported features included hypertrichosis, macrosomia, macrocephaly, coarse facies, cardiomegaly, hypertension, developmental delay and skeletal/vascular abnormalities. PMID 24700710: de novo KCNJ8 c.526T>A p.(Cys176Ser), identified by targeted Sanger sequencing in an ABCC9-negative patient. Features included hypertrichosis, macrosomia, macrocephaly, coarse facies, cardiomegaly, patent ductus arteriosus, developmental delay and skeletal abnormalities. Functional studies demonstrated K-ATP-channel gain of function. PMID 32215968: de novo KCNJ8 c.991G>A p.(Glu189Lys) identified in an ABCC9-negative Japanese patient with hypertrichosis, coarse facies, patent ductus arteriosus and delayed motor development. No skeletal features were noted. PMID 35243770: de novo KCNJ8 c.994G>A p.(Glu332Lys), identified by trio exome sequencing in an infant with Cantu syndrome, presenting with hypertrichosis, macrocephaly, facial dysmorphism, cardiomegaly, and vascular and skeletal abnormalities. The authors compared features reported in the four KCNJ8-related Cantu patients reported to date with ACCC9-related Cantu disease and noted similar features, as expected (table 1). KCNJ8 is not yet associated with the relevant phenotype in OMIM,but is cited in G2P with a strong association with monoallelic KCNJ8-related Cantu syndrome. Sources: Literature; to: Four unrelated patients with Cantu syndrome and de novo missense KCNJ8 variants have been reported in the literature. Cantu syndrome is also, more frequently, associated with monoallelic ABCC9 variants. Recurrent features, consistent with ABCC9-related Cantu syndrome include generalised hypertrichosis, coarse facial appearance/ facial dysmorphism, macrosomia, and Osteochondrodysplasia. PMID 24176758: de novo KCNJ8 c.193G>A p.(Val65Met), identified by trio exome sequencing after exclusion of ABCC9 variants. Reported features included hypertrichosis, macrosomia, macrocephaly, coarse facies, cardiomegaly, hypertension, developmental delay and skeletal/vascular abnormalities. PMID 24700710: de novo KCNJ8 c.526T>A p.(Cys176Ser), identified by targeted Sanger sequencing in an ABCC9-negative patient. Features included hypertrichosis, macrosomia, macrocephaly, coarse facies, cardiomegaly, patent ductus arteriosus, developmental delay and skeletal abnormalities. Functional studies demonstrated K-ATP-channel gain of function. PMID 32215968: de novo KCNJ8 c.991G>A p.(Glu189Lys) identified in an ABCC9-negative Japanese patient with hypertrichosis, coarse facies, patent ductus arteriosus and delayed motor development. No skeletal features were noted. PMID 35243770: de novo KCNJ8 c.994G>A p.(Glu332Lys), identified by trio exome sequencing in an infant with Cantu syndrome, presenting with hypertrichosis, macrocephaly, facial dysmorphism, cardiomegaly, and vascular and skeletal abnormalities. The authors compared features reported in the four KCNJ8-related Cantu patients reported to date with ACCC9-related Cantu disease and noted similar features, as expected (table 1). KCNJ8 is not yet associated with the relevant phenotype in OMIM,but is cited in G2P with a strong association with monoallelic KCNJ8-related Cantu syndrome. Sources: Literature |
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| Paediatric disorders - additional genes v8.33 | KCNJ8 |
Luke Stuart changed review comment from: Four unrelated patents with Cantu syndrome and de novo missense KCNJ8 variants have been reported in the literature. Cantu syndrome is also, more frequently, associated with monoallelic ABCC9 variants. Recurrent features, consistent with ABCC9-related Cantu syndrome include generalised hypertrichosis, coarse facial appearance/ facial dysmorphism, macrosomia, and Osteochondrodysplasia. PMID 24176758: de novo KCNJ8 c.193G>A p.(Val65Met), identified by trio exome sequencing after exclusion of ABCC9 variants. Reported features included hypertrichosis, macrosomia, macrocephaly, coarse facies, cardiomegaly, hypertension, developmental delay and skeletal/vascular abnormalities. PMID 24700710: de novo KCNJ8 c.526T>A p.(Cys176Ser), identified by targeted Sanger sequencing in an ABCC9-negative patient. Features included hypertrichosis, macrosomia, macrocephaly, coarse facies, cardiomegaly, patent ductus arteriosus, developmental delay and skeletal abnormalities. Functional studies demonstrated K-ATP-channel gain of function. PMID 32215968: de novo KCNJ8 c.991G>A p.(Glu189Lys) identified in an ABCC9-negative Japanese patient with hypertrichosis, coarse facies, patent ductus arteriosus and delayed motor development. No skeletal features were noted. PMID 35243770: de novo KCNJ8 c.994G>A p.(Glu332Lys), identified by trio exome sequencing in an infant with Cantu syndrome, presenting with hypertrichosis, macrocephaly, facial dysmorphism, cardiomegaly, and vascular and skeletal abnormalities. The authors compared features reported in the four KCNJ8-related Cantu patients reported to date with ACCC9-related Cantu disease and noted similar features, as expected (table 1). KCNJ8 is not yet associated with the relevant phenotype in OMIM,but is cited in G2P with a strong association with monoallelic KCNJ8-related Cantu. Sources: Literature; to: Four unrelated patents with Cantu syndrome and de novo missense KCNJ8 variants have been reported in the literature. Cantu syndrome is also, more frequently, associated with monoallelic ABCC9 variants. Recurrent features, consistent with ABCC9-related Cantu syndrome include generalised hypertrichosis, coarse facial appearance/ facial dysmorphism, macrosomia, and Osteochondrodysplasia. PMID 24176758: de novo KCNJ8 c.193G>A p.(Val65Met), identified by trio exome sequencing after exclusion of ABCC9 variants. Reported features included hypertrichosis, macrosomia, macrocephaly, coarse facies, cardiomegaly, hypertension, developmental delay and skeletal/vascular abnormalities. PMID 24700710: de novo KCNJ8 c.526T>A p.(Cys176Ser), identified by targeted Sanger sequencing in an ABCC9-negative patient. Features included hypertrichosis, macrosomia, macrocephaly, coarse facies, cardiomegaly, patent ductus arteriosus, developmental delay and skeletal abnormalities. Functional studies demonstrated K-ATP-channel gain of function. PMID 32215968: de novo KCNJ8 c.991G>A p.(Glu189Lys) identified in an ABCC9-negative Japanese patient with hypertrichosis, coarse facies, patent ductus arteriosus and delayed motor development. No skeletal features were noted. PMID 35243770: de novo KCNJ8 c.994G>A p.(Glu332Lys), identified by trio exome sequencing in an infant with Cantu syndrome, presenting with hypertrichosis, macrocephaly, facial dysmorphism, cardiomegaly, and vascular and skeletal abnormalities. The authors compared features reported in the four KCNJ8-related Cantu patients reported to date with ACCC9-related Cantu disease and noted similar features, as expected (table 1). KCNJ8 is not yet associated with the relevant phenotype in OMIM,but is cited in G2P with a strong association with monoallelic KCNJ8-related Cantu syndrome. Sources: Literature |
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| Paediatric disorders - additional genes v8.33 | KCNJ8 |
Luke Stuart changed review comment from: Four unrelated patents with Cantu syndrome and de novo missense KCNJ8 variants have been reported in the literature. Cantu syndrome is also, more frequently, associated with monoallelic ABCC9 variants. Recurrent features, consisytent with ABCC9-related Cantu syndrome include generalised hypertrichosis, coarse facial appearance/ facial dysmorphism, macrosomia, and Osteochondrodysplasia. PMID 24176758: de novo KCNJ8 c.193G>A p.(Val65Met), identified by trio exome sequencing after exclusion of ABCC9 variants. Reported features included hypertrichosis, macrosomia, macrocephaly, coarse facies, cardiomegaly, hypertension, developmental delay and skeletal/vascular abnormalities. PMID 24700710: de novo KCNJ8 c.526T>A p.(Cys176Ser), identified by targeted Sanger sequencing in an ABCC9-negative patient. Features included hypertrichosis, macrosomia, macrocephaly, coarse facies, cardiomegaly, patent ductus arteriosus, developmental delay and skeletal abnormalities. Functional studies demonstrated K-ATP-channel gain of function. PMID 32215968: de novo KCNJ8 c.991G>A p.(Glu189Lys) identified in an ABCC9-negative Japanese patient with hypertrichosis, coarse facies, patent ductus arteriosus and delayed motor development. No skeletal features were noted. PMID 35243770: de novo KCNJ8 c.994G>A p.(Glu332Lys), identified by trio exome sequencing in an infant with Cantu syndrome, presenting with hypertrichosis, macrocephaly, facial dysmorphism, cardiomegaly, and vascular and skeletal abnormalities. The authors compared features reported in the four KCNJ8-related Cantu patients reported to date with ACCC9-related Cantu disease and noted similar features, as expected (table 1). KCNJ8 is not yet associated with the relevant phenotype in OMIM,but is cited in G2P with a strong association with monoallelic KCNJ8-related Cantu. Sources: Literature; to: Four unrelated patents with Cantu syndrome and de novo missense KCNJ8 variants have been reported in the literature. Cantu syndrome is also, more frequently, associated with monoallelic ABCC9 variants. Recurrent features, consistent with ABCC9-related Cantu syndrome include generalised hypertrichosis, coarse facial appearance/ facial dysmorphism, macrosomia, and Osteochondrodysplasia. PMID 24176758: de novo KCNJ8 c.193G>A p.(Val65Met), identified by trio exome sequencing after exclusion of ABCC9 variants. Reported features included hypertrichosis, macrosomia, macrocephaly, coarse facies, cardiomegaly, hypertension, developmental delay and skeletal/vascular abnormalities. PMID 24700710: de novo KCNJ8 c.526T>A p.(Cys176Ser), identified by targeted Sanger sequencing in an ABCC9-negative patient. Features included hypertrichosis, macrosomia, macrocephaly, coarse facies, cardiomegaly, patent ductus arteriosus, developmental delay and skeletal abnormalities. Functional studies demonstrated K-ATP-channel gain of function. PMID 32215968: de novo KCNJ8 c.991G>A p.(Glu189Lys) identified in an ABCC9-negative Japanese patient with hypertrichosis, coarse facies, patent ductus arteriosus and delayed motor development. No skeletal features were noted. PMID 35243770: de novo KCNJ8 c.994G>A p.(Glu332Lys), identified by trio exome sequencing in an infant with Cantu syndrome, presenting with hypertrichosis, macrocephaly, facial dysmorphism, cardiomegaly, and vascular and skeletal abnormalities. The authors compared features reported in the four KCNJ8-related Cantu patients reported to date with ACCC9-related Cantu disease and noted similar features, as expected (table 1). KCNJ8 is not yet associated with the relevant phenotype in OMIM,but is cited in G2P with a strong association with monoallelic KCNJ8-related Cantu. Sources: Literature |
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| Paediatric disorders - additional genes v8.33 | KCNJ8 | Luke Stuart Classified gene: KCNJ8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.33 | KCNJ8 | Luke Stuart Gene: kcnj8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.32 | KCNJ8 |
Luke Stuart gene: KCNJ8 was added gene: KCNJ8 was added to Paediatric disorders - additional genes. Sources: Literature Q4_26_promote_green tags were added to gene: KCNJ8. Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ8 were set to 24176758; 24700710; 33617015; 35243770 Phenotypes for gene: KCNJ8 were set to Hypertrichotic osteochondrodysplasia (Cantu syndrome) (OMIM 239850); hypertrichotic osteochondrodysplasia Cantu type (MONDO:0009406) Mode of pathogenicity for gene: KCNJ8 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: KCNJ8 was set to GREEN Added comment: Four unrelated patents with Cantu syndrome and de novo missense KCNJ8 variants have been reported in the literature. Cantu syndrome is also, more frequently, associated with monoallelic ABCC9 variants. Recurrent features, consisytent with ABCC9-related Cantu syndrome include generalised hypertrichosis, coarse facial appearance/ facial dysmorphism, macrosomia, and Osteochondrodysplasia. PMID 24176758: de novo KCNJ8 c.193G>A p.(Val65Met), identified by trio exome sequencing after exclusion of ABCC9 variants. Reported features included hypertrichosis, macrosomia, macrocephaly, coarse facies, cardiomegaly, hypertension, developmental delay and skeletal/vascular abnormalities. PMID 24700710: de novo KCNJ8 c.526T>A p.(Cys176Ser), identified by targeted Sanger sequencing in an ABCC9-negative patient. Features included hypertrichosis, macrosomia, macrocephaly, coarse facies, cardiomegaly, patent ductus arteriosus, developmental delay and skeletal abnormalities. Functional studies demonstrated K-ATP-channel gain of function. PMID 32215968: de novo KCNJ8 c.991G>A p.(Glu189Lys) identified in an ABCC9-negative Japanese patient with hypertrichosis, coarse facies, patent ductus arteriosus and delayed motor development. No skeletal features were noted. PMID 35243770: de novo KCNJ8 c.994G>A p.(Glu332Lys), identified by trio exome sequencing in an infant with Cantu syndrome, presenting with hypertrichosis, macrocephaly, facial dysmorphism, cardiomegaly, and vascular and skeletal abnormalities. The authors compared features reported in the four KCNJ8-related Cantu patients reported to date with ACCC9-related Cantu disease and noted similar features, as expected (table 1). KCNJ8 is not yet associated with the relevant phenotype in OMIM,but is cited in G2P with a strong association with monoallelic KCNJ8-related Cantu. Sources: Literature |
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