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Intellectual disability

Gene: ZNF699

Amber List (moderate evidence)

ZNF699 (zinc finger protein 699)
EnsemblGeneIds (GRCh38): ENSG00000196110
EnsemblGeneIds (GRCh37): ENSG00000196110
OMIM: 609571, Gene2Phenotype
ZNF699 is in 1 panel

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 phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 11 Oct 2021, 9:41 a.m. | Last Modified: 11 Oct 2021, 9:41 a.m.
Panel Version: 3.1336

Zornitza Stark (Australian Genomics)

Green List (high evidence)

DEGCAGS syndrome is a neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anaemia or pancytopaenia, and immunodeficiency with recurrent infections.

12 unrelated families reported, 5 different homozygous frameshift variants.
Sources: Literature
Created: 11 Sep 2021, 10:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
DEGCAGS syndrome, MIM# 619488

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • DEGCAGS syndrome, OMIM:619488
Tags
Q4_21_rating
OMIM
609571
Clinvar variants
Variants in ZNF699
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: ZNF699.

11 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: znf699 has been classified as Amber List (Moderate Evidence).

11 Oct 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ZNF699 were changed from DEGCAGS syndrome, MIM# 619488 to DEGCAGS syndrome, OMIM:619488

11 Sep 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ZNF699 was added gene: ZNF699 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF699 were set to 33875846 Phenotypes for gene: ZNF699 were set to DEGCAGS syndrome, MIM# 619488 Review for gene: ZNF699 was set to GREEN