Craniosynostosis
Gene: RARA
RARA (retinoic acid receptor alpha)
EnsemblGeneIds (GRCh38): ENSG00000131759
EnsemblGeneIds (GRCh37): ENSG00000131759
OMIM: 180240, Gene2Phenotype
RARA is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000131759
EnsemblGeneIds (GRCh37): ENSG00000131759
OMIM: 180240, Gene2Phenotype
RARA is in 4 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
PMID: 37086723 identified a recurrent, heterozygous de novo missense variant in the RARA gene - c.865G>A; (p.Gly289Arg) - in two unrelated individuals. The variant is absent from gnomAD, highly conserved, major grantham score (125) and is located in the hormone receptor domain (DECIPHER).
Both individuals had severe craniosynostosis (sagittal or bicoronal).
Other shared phenotypic features included:
- Limb anomalies (rocker-bottom feet, bowing of the legs, and short upper/lower limbs)
- Additional craniofacial manifestations(microtia, conductive hearing loss, ankyloglossia, esotropia, hypoplastic
nasal bones, and oligodontia)
- Other additional anomalies included renal dysplasia with cysts, tracheomalacia, pulmonary arterial hypertension, developmental delays, hypotonia, cryptorchidism, seizures and adrenal insufficiency.
The authors postulate a gain of function mechanism. No functional studies provided. The gene encodes the retinoic acid receptor. Overlapping phenotypic features in these 2 affected individuals with retinoic acid embryopathy noted by the authors.Created: 4 May 2023, 2:53 a.m. | Last Modified: 4 May 2023, 2:53 a.m.
Panel Version: 1.56
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Craniosynostosis - MONDO:0015469
Publications
- PMID: 37086723
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Craniosynostosis - MONDO:0015469
- OMIM
- 180240
- Clinvar variants
- Variants in RARA
- Penetrance
- None
- Publications
-
- PMID: 37086723
- Panels with this gene
History Filter Activity
4 May 2023, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rara has been classified as Amber List (Moderate Evidence).
4 May 2023, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rara has been classified as Amber List (Moderate Evidence).
4 May 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)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