Radial Ray Abnormalities
Gene: ESCO2EnsemblGeneIds (GRCh38): ENSG00000171320
EnsemblGeneIds (GRCh37): ENSG00000171320
OMIM: 609353, Gene2Phenotype
ESCO2 is in 16 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Note recently reported allelic disorder which also has radial ray abnormalities as a feature:
Juberg-Hayward syndrome (JHS) is characterized by cleft lip and palate, rhizomelia of the upper limbs with limited elbow extension due to humeroradial synostosis or dislocation of the radial head, and digital anomalies, including shortened thumbs and index and fifth fingers. Microcephaly has been observed in some patients. Two families reported but same homozygous truncating variant and ethnicity, likely founder effect.Created: 18 Mar 2021, 11:16 p.m. | Last Modified: 18 Mar 2021, 11:16 p.m.
Panel Version: 0.76
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300
Publications
Natalie Tan (Victorian Clinical Genetics Services)
Sources: NHS GMS
Multiple unrelated individuals with biallelic variants in association with Roberts syndrome/SC phocomelia spectrum.Created: 22 Jul 2020, 6:26 a.m. | Last Modified: 22 Jul 2020, 6:32 a.m.
Panel Version: 0.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Roberts syndrome 268300; SC phocomelia syndrome 269000
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Roberts syndrome 268300
- SC phocomelia syndrome 269000
- Juberg-Hayward syndrome, MIM# 216100
- OMIM
- 609353
- Clinvar variants
- Variants in ESCO2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Hand and foot malformations
- Radial Ray Abnormalities
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Cataract
- Prepair 500+
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ESCO2 were changed from Roberts syndrome 268300; SC phocomelia syndrome 269000 to Roberts syndrome 268300; SC phocomelia syndrome 269000; Juberg-Hayward syndrome, MIM# 216100
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ESCO2 were set to 19574259; 16380922
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: esco2 has been classified as Green List (High Evidence).
Set publications
Seb Lunke (Victorian Clinical Genetics Services)Publications for gene: ESCO2 were set to PMID: 19574259; 16380922
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: esco2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Natalie Tan (Victorian Clinical Genetics Services)gene: ESCO2 was added gene: ESCO2 was added to Radial Ray Abnormalities. Sources: NHS GMS Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESCO2 were set to PMID: 19574259; 16380922 Phenotypes for gene: ESCO2 were set to Roberts syndrome 268300; SC phocomelia syndrome 269000 Review for gene: ESCO2 was set to GREEN