Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.44
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
Phenotypes
- LIG4 syndrome, OMIM:606593
|
Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.18
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Curated sources
Phenotypes
- LIG4 syndrome, OMIM:606593
- Class: miscellaneous
- Ligase IV syndrome
- Lymphoma
- ALL
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
review
|
Not set
|
Sources
- Expert Review Amber
- Expert list
|
Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- LIG4 syndrome, OMIM:606593
- microcephaly, growth retardation, immunodeficiency, developmental delay
|
Level 2: Viral research
Version 1.142
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- IUIS Classification February 2018
- SCID v1.6
- London North GLH
- GOSH PID v.8.0
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Combined B and T cell defect v1.12
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
- SCID v1.6
- Combined B and T cell defect v1.12
Phenotypes
- Combined immunodeficiency
- LIG4 syndrome
- DNA ligase IV deficiency
- Nl NK, radiation sensitive, microcephaly
- Immunodeficiencies affecting cellular and humoral immunity
- T-B+ SCID
- Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450
- Severe combined immunodeficiency (SCID)
- T-B- SCID
- LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500
- Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
- SCID v1.6
- Combined B and T cell defect v1.12
Phenotypes
- LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500
- Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450
- Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation
- T-B- SCID
- T-B+ SCID
- LIG4 syndrome
- Combined immunodeficiency
- Severe combined immunodeficiency (SCID)
- DNA ligase IV deficiency
- Nl NK, radiation sensitive, microcephaly
- Immunodeficiencies affecting cellular and humoral immunity
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Curated sources
Phenotypes
- LIG4 syndrome, OMIM:606593
- Ligase IV syndrome
- Lymphoma
- ALL
|
Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Other
- Expert list
Phenotypes
- LIG4 syndrome, OMIM:606593
- Microcephalic primordial dwarfism
|
Version 3.34
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- London South GLH
Phenotypes
- LIG4 syndrome, OMIM:606593
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- LIG4 syndrome, OMIM:606593
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION 602450
- LIG4 SYNDROME 606593
|
Version 3.95
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- LIG4 syndrome, OMIM:606593
- microcephaly, growth retardation, immunodeficiency, developmental delay
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- LIG4 syndrome, OMIM:606593
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
|