Periventricular Grey Matter Heterotopia
Gene: FAT4EnsemblGeneIds (GRCh38): ENSG00000196159
EnsemblGeneIds (GRCh37): ENSG00000196159
OMIM: 612411, Gene2Phenotype
FAT4 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PVNH reported in two families.Created: 27 Aug 2020, 10:39 a.m. | Last Modified: 27 Aug 2020, 10:39 a.m.
Panel Version: 0.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Van Maldergem syndrome 2, MIM# 615546
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Australian Genomics Health Alliance Brain Malformation Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Van Maldergem syndrome 2, MIM# 615546
- OMIM
- 612411
- Clinvar variants
- Variants in FAT4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Fetal anomalies
- Prepair 1000+
- Pulmonary Fibrosis_Interstitial Lung Disease
- Mendeliome
- Lymphoedema_syndromic
- Periventricular Grey Matter Heterotopia
- Prepair 500+
- Lymphoedema_nonsyndromic
- Interstitial Lung Disease
- Intellectual disability syndromic and non-syndromic
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fat4 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FAT4 were changed from to Van Maldergem syndrome 2, MIM# 615546
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FAT4 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FAT4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fat4 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FAT4 was added gene: FAT4 was added to Periventricular grey matter heterotopia_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Australian Genomics Health Alliance Brain Malformation Flagship Mode of inheritance for gene: FAT4 was set to Unknown