Macrocephaly_Megalencephaly
Gene: FAM20C
FAM20C (FAM20C, golgi associated secretory pathway kinase)
EnsemblGeneIds (GRCh38): ENSG00000177706
EnsemblGeneIds (GRCh37): ENSG00000177706
OMIM: 611061, Gene2Phenotype
FAM20C is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000177706
EnsemblGeneIds (GRCh37): ENSG00000177706
OMIM: 611061, Gene2Phenotype
FAM20C is in 22 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Microcephaly rather than macrocephaly/megalencephaly is a feature of the conditionCreated: 27 Sep 2024, 7:33 a.m. | Last Modified: 27 Sep 2024, 7:33 a.m.
Panel Version: 0.146
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- OMIM
- 611061
- Clinvar variants
- Variants in FAM20C
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Calcium and Phosphate disorders
- Clefting disorders
- Prepair 1000+
- Microcephaly
- Brain Calcification
- BabyScreen+ newborn screening
- Osteopetrosis
- Intellectual disability syndromic and non-syndromic
- Hydrocephalus_Ventriculomegaly
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Choanal atresia
- Arthrogryposis
- Amelogenesis imperfecta
- Mendeliome
- Renal Tubulopathies and related disorders
- Cerebral Palsy
History Filter Activity
27 Sep 2024, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fam20c has been classified as Red List (Low Evidence).
27 Sep 2024, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fam20c has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FAM20C was added gene: FAM20C was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAM20C was set to Unknown