Arthrogryposis
Gene: RAPSN

RAPSN (receptor associated protein of the synapse)
EnsemblGeneIds (GRCh38): ENSG00000165917
EnsemblGeneIds (GRCh37): ENSG00000165917
OMIM: 601592, Gene2Phenotype
RAPSN is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

3 unrelated families; history of early miscarriages; biallelic (del and missense) variants in RAPSN.

In most cases, Fetal akinesia sequence was detected on prenatal ultrasound displaying hypokinesia, growth retardation, fetal dysmorphology (micrognathia, fixed position of the hands, elbows, feet and short neck) and no respiratory movements.

Most affected foetuses did not reach term due to spontaneous abortion, early intrauterine death, or pregnancy termination. If born alive, severe neonatal respiratory distress and inborn contractures are observed, leading to loss of life (often shortly after birth).
Created: 2 Sep 2021, 7:57 a.m. | Last Modified: 2 Sep 2021, 7:57 a.m.

Panel Version: 0.288

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal akinesia deformation sequence 2 MIM# 618388; AChR deficiency; fetal akinesia; IUGR; micrognathia; hypokinesia; contractures; muscular hypotonia; feeding difficulties; severe respiratory insufficiency; history of miscarriage

Publications

Created: 2 Sep 2021, 7:57 a.m.
Last Modified: 2 Sep 2021, 7:57 a.m.
Panel version: 0.288

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Fetal akinesia deformation sequence 2 MIM# 618388
AChR deficiency
fetal akinesia
IUGR
micrognathia
hypokinesia
contractures
muscular hypotonia
feeding difficulties
severe respiratory insufficiency
history of miscarriage

OMIM

601592

Clinvar variants

Variants in RAPSN

Penetrance

None

Publications

Panels with this gene