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| Craniosynostosis v1.56 | RARA | Krithika Murali reviewed gene: RARA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37086723; Phenotypes: Craniosynostosis - MONDO:0015469; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.56 | RARA | Krithika Murali Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.56 | RARA | Krithika Murali reviewed gene: RARA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.56 | RARA | Zornitza Stark Marked gene: RARA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.56 | RARA | Zornitza Stark Gene: rara has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.56 | RARA | Zornitza Stark Classified gene: RARA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.56 | RARA | Zornitza Stark Gene: rara has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.55 | RARA | Krithika Murali Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.55 | RARA |
Krithika Murali changed review comment from: PMID: 37086723 - a study of 526 probands with syndromic craniosynostosis and analysis of trio exome sequencing data. The authors report 2 unrelated individuals with a similar phenotype and a recurrent de novo heterozygous missense RARA variant - c.865G>A; p.(Gly289Arg). Gain of function mechanism postulated. No functional studies. Gene encodes retinoic acid receptor with some phenotypic features overlapping with prenatal retionic acid teratogen exposure. The variant is absent from gnomAD, major GS (125), highly conserved residue in the hormone receptor domain. Both affected individuals had severe craniosynostosis (sagittal or bicoronal). Other shared phenotypic features included: - limb anomalies (rocker-bottom feet, bowing of the legs, and short uppe rand lower limbs) - other craniofacial anomalies (microtia,conductive hearing loss, ankyloglossia, esotropia, hypo-plastic nasal bones, and oligodontia) - renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures, adrenal insufficiency Sources: Literature; to: PMID: 37086723 - a study of 526 probands with syndromic craniosynostosis and analysis of trio exome sequencing data. The authors report 2 unrelated individuals with a similar phenotype and a recurrent de novo heterozygous missense RARA variant - c.865G>A; p.(Gly289Arg). Gain of function mechanism postulated. No functional studies. Gene encodes retinoic acid receptor with some phenotypic features overlapping with prenatal retionic acid teratogen exposure. The variant is absent from gnomAD, major GS (125), highly conserved residue in the hormone receptor domain. Both affected individuals had severe craniosynostosis (sagittal or bicoronal). Other shared phenotypic features included: - limb anomalies (rocker-bottom feet, bowing of the legs, and short upper and lower limbs) - other craniofacial anomalies (microtia,conductive hearing loss, ankyloglossia, esotropia, hypo-plastic nasal bones, and oligodontia) - renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures, adrenal insufficiency Sources: Literature |
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| Craniosynostosis v1.55 | RARA |
Krithika Murali changed review comment from: PMID: 37086723 - a study of 526 probands with syndromic craniosynostosis and analysis of exome sequencing data. The authors report 2 unrelated individuals with a similar phenotype and a recurrent de novo heterozygous missense RARA variant - c.865G>A; p.(Gly289Arg). Gain of function mechanism postulated. No functional studies. Gene encodes retinoic acid receptor with some phenotypic features overlapping with prenatal retionic acid teratogen exposure. The variant is absent from gnomAD, major GS (125), highly conserved residue in the hormone receptor domain. Both affected individuals had severe craniosynostosis (sagittal or bicoronal). Other shared phenotypic features included: - limb anomalies (rocker-bottom feet, bowing of the legs, and short uppe rand lower limbs) - other craniofacial anomalies (microtia,conductive hearing loss, ankyloglossia, esotropia, hypo-plastic nasal bones, and oligodontia) - renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures, adrenal insufficiency Sources: Literature; to: PMID: 37086723 - a study of 526 probands with syndromic craniosynostosis and analysis of trio exome sequencing data. The authors report 2 unrelated individuals with a similar phenotype and a recurrent de novo heterozygous missense RARA variant - c.865G>A; p.(Gly289Arg). Gain of function mechanism postulated. No functional studies. Gene encodes retinoic acid receptor with some phenotypic features overlapping with prenatal retionic acid teratogen exposure. The variant is absent from gnomAD, major GS (125), highly conserved residue in the hormone receptor domain. Both affected individuals had severe craniosynostosis (sagittal or bicoronal). Other shared phenotypic features included: - limb anomalies (rocker-bottom feet, bowing of the legs, and short uppe rand lower limbs) - other craniofacial anomalies (microtia,conductive hearing loss, ankyloglossia, esotropia, hypo-plastic nasal bones, and oligodontia) - renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures, adrenal insufficiency Sources: Literature |
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| Craniosynostosis v1.55 | RARA |
Krithika Murali gene: RARA was added gene: RARA was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: RARA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RARA were set to PMID: 37086723 Phenotypes for gene: RARA were set to Craniosynostosis - MONDO:0015469 Review for gene: RARA was set to AMBER Added comment: PMID: 37086723 - a study of 526 probands with syndromic craniosynostosis and analysis of exome sequencing data. The authors report 2 unrelated individuals with a similar phenotype and a recurrent de novo heterozygous missense RARA variant - c.865G>A; p.(Gly289Arg). Gain of function mechanism postulated. No functional studies. Gene encodes retinoic acid receptor with some phenotypic features overlapping with prenatal retionic acid teratogen exposure. The variant is absent from gnomAD, major GS (125), highly conserved residue in the hormone receptor domain. Both affected individuals had severe craniosynostosis (sagittal or bicoronal). Other shared phenotypic features included: - limb anomalies (rocker-bottom feet, bowing of the legs, and short uppe rand lower limbs) - other craniofacial anomalies (microtia,conductive hearing loss, ankyloglossia, esotropia, hypo-plastic nasal bones, and oligodontia) - renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures, adrenal insufficiency Sources: Literature |
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