Hydrops fetalis
Gene: KIAA0586EnsemblGeneIds (GRCh38): ENSG00000100578
EnsemblGeneIds (GRCh37): ENSG00000100578
OMIM: 610178, Gene2Phenotype
KIAA0586 is in 16 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment on list classification: Only one individual with hydrops from a series of 8; emerging gene, phenotype yet to be delineated.Created: 30 Dec 2019, 6:35 a.m. | Last Modified: 30 Dec 2019, 6:35 a.m.
Panel Version: 0.74
George McGillivray (Victorian Clinical Genetics Services)
20191230:
PMID 26166481 reports a single case from 8 affected from 4 families
Sources: OtherCreated: 30 Dec 2019, 4:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrolethalus
Publications
- KIAA0586
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Hydrolethalus
- short rib polydactyly
- OMIM
- 610178
- Clinvar variants
- Variants in KIAA0586
- Penetrance
- None
- Publications
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Clefting disorders
- Prepair 1000+
- Renal Ciliopathies and Nephronophthisis
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Hydrocephalus_Ventriculomegaly
- Skeletal dysplasia
- Fetal anomalies
- Skeletal Dysplasia_Fetal
- Mendeliome
- Callosome
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kiaa0586 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KIAA0586 were changed from Hydrolethalus; short rib polydactyly to Hydrolethalus; short rib polydactyly
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: KIAA0586 were set to 26166481
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KIAA0586 were changed from Hydrolethalus to Hydrolethalus; short rib polydactyly
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: KIAA0586 were set to KIAA0586
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kiaa0586 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
George McGillivray (Victorian Clinical Genetics Services)gene: KIAA0586 was added gene: KIAA0586 was added to Hydrops fetalis_VCGS. Sources: Other Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0586 were set to KIAA0586 Phenotypes for gene: KIAA0586 were set to Hydrolethalus Review for gene: KIAA0586 was set to AMBER