Skeletal Dysplasia_Fetal
Gene: ROR2EnsemblGeneIds (GRCh38): ENSG00000169071
EnsemblGeneIds (GRCh37): ENSG00000169071
OMIM: 602337, Gene2Phenotype
ROR2 is in 13 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Antenatal findings of acromesomelia reported with Robinow syndrome.
Sources: Expert list, LiteratureCreated: 27 Sep 2022, 11:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Robinow syndrome, autosomal recessive - MIM#268310
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Expert list
- Phenotypes
-
- Robinow syndrome, autosomal recessive - MIM#268310
- OMIM
- 602337
- Clinvar variants
- Variants in ROR2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability syndromic and non-syndromic
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Growth failure
- Hand and foot malformations
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ror2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ror2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: ROR2 was added gene: ROR2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROR2 were set to 20301418; 31617258; 24932600 Phenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive - MIM#268310 Review for gene: ROR2 was set to GREEN