Growth failure
Gene: LIG4EnsemblGeneIds (GRCh38): ENSG00000174405
EnsemblGeneIds (GRCh37): ENSG00000174405
OMIM: 601837, Gene2Phenotype
LIG4 is in 18 panels
2 reviews
Santosh Varughese (University of Melbourne)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LIG4 syndrome; MULTIPLE MYELOMA, RESISTANCE TO
Publications
- 16088910
- 9823897
- 10911993
- 15333585
- 9809069
- 12023982
- 11040211
- , images, related citations] [Full Text] 15175260
- 19451691
- 17554302
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Autosomal recessive disorder characterised by microcephaly, growth and/or developmental delay, pancytopaenia, and various skin abnormalities. Cell lines show pronounced radiosensitivity. At least 7 unrelated families reported, mouse model.Created: 14 Sep 2020, 12:37 a.m. | Last Modified: 14 Sep 2020, 12:37 a.m.
Panel Version: 0.23
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LIG4 syndrome, MIM# 606593
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Victorian Clinical Genetics Services
- Phenotypes
-
- LIG4 syndrome, MIM# 606593
- microcephaly, growth retardation, immunodeficiency, developmental delay
- Tags
- OMIM
- 601837
- Clinvar variants
- Variants in LIG4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Chromosome Breakage Disorders
- Prepair 1000+
- Microcephaly
- Inflammatory bowel disease
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Disorders of immune dysregulation
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Severe Combined Immunodeficiency (absent T absent B cells)
- IBMDx study
- Cataract
- Prepair 500+
- Growth failure
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: LIG4.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lig4 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LIG4 were changed from microcephaly, growth retardation, immunodeficiency, developmental delay to LIG4 syndrome, MIM# 606593; microcephaly, growth retardation, immunodeficiency, developmental delay
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LIG4 were set to 11779494, 16088910,
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lig4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LIG4 was added gene: LIG4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG4 were set to 11779494, 16088910, Phenotypes for gene: LIG4 were set to microcephaly, growth retardation, immunodeficiency, developmental delay