Skeletal dysplasia
Gene: ASXL1

ASXL1 (additional sex combs like 1, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000171456
EnsemblGeneIds (GRCh37): ENSG00000171456
OMIM: 612990, Gene2Phenotype
ASXL1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound ID, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints.

Multiple individuals reported.
Created: 8 Nov 2021, 3:50 a.m. | Last Modified: 8 Nov 2021, 3:51 a.m.

Panel Version: 0.9631

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bohring-Opitz syndrome , MIM#605039

Publications

Created: 8 Nov 2021, 3:50 a.m.
Last Modified: 8 Nov 2021, 3:51 a.m.
Panel version: Imported from Mendeliome panel version 0.9631

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Expert Review Green
Radboud University Medical Center, Nijmegen
NHS GMS
Expert list
Victorian Clinical Genetics Services

Phenotypes

Bohring-Opitz syndrome 605039

OMIM

612990

Clinvar variants

Variants in ASXL1

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASXL1 was added gene: ASXL1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome 605039

Skeletal dysplasia Gene: ASXL1