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  2. Malformations of cortical development
  3. FAT4
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Malformations of cortical development

Gene: FAT4

Amber List (moderate evidence)
FAT4 (FAT atypical cadherin 4)
EnsemblGeneIds (GRCh38): ENSG00000196159
EnsemblGeneIds (GRCh37): ENSG00000196159
OMIM: 612411, Gene2Phenotype
FAT4 is in 8 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Created: 13 Sep 2021, 3:09 p.m. | Last Modified: 13 Sep 2021, 3:09 p.m.
Panel Version: 2.85
Created: 13 Sep 2021, 3:09 p.m.
Last Modified: 13 Sep 2021, 3:09 p.m.
Panel version: 2.85

Zornitza Stark (Australian Genomics)

I don't know

PVNH reported in two families.
Sources: Expert list
Created: 27 Aug 2020, 10:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Van Maldergem syndrome 2, MIM# 615546

Publications

Created: 27 Aug 2020, 10:42 a.m.

Panel version: 2.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Van Maldergem syndrome 2, OMIM:615546
Tags
watchlist
OMIM
612411
Clinvar variants
Variants in FAT4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Sep 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: FAT4.

13 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: fat4 has been classified as Amber List (Moderate Evidence).

13 Sep 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FAT4 were changed from Van Maldergem syndrome 2, MIM# 615546 to Van Maldergem syndrome 2, OMIM:615546

27 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: FAT4 was added gene: FAT4 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT4 were set to 22473091; 24056717 Phenotypes for gene: FAT4 were set to Van Maldergem syndrome 2, MIM# 615546 Review for gene: FAT4 was set to AMBER