ASXL1

additional sex combs like 1, transcriptional regulator
OMIM: 612990, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green ASXL1 in Limb disorders Version 5.4 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Bohring-Opitz syndrome, 605039
Red ASXL1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Bohring-Opitz syndrome, 605039 Myelodysplastic syndrome, somatic, 614286 juvenile myelomonocytic leukaemia aquired aplastic anaemia Tags somatic
Green ASXL1 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.3 Latest signed off version: v6.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Phenotypes Bohring-Opitz syndrome 605039
Green ASXL1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Bohring-Opitz syndrome 605039
Green ASXL1 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes BOHRING-OPITZ SYNDROME
Green ASXL1 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Bohring-Opitz syndrome, 605039 Metopic synostosis frequently associated with Bohring-Opitz syndrome
Green ASXL1 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BOHRING-OPITZ SYNDROME 605039
Green ASXL1 in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes BOHRING-OPITZ SYNDROME BOPS
Green ASXL1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.11 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bohring-Opitz syndrome, 605039Myelodysplastic syndrome, somatic, 614286 BOHRING-OPITZ SYNDROME
Green ASXL1 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Bohring-Opitz syndrome, 605039