Monogenic short stature
Gene: FBN1EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 15 panels
1 review
Melissa Connolly (WMRGL GLH)
Gene included in a list of the ten most prevalent genetic causes of isolated short stature (Supplementary information 4). Text references reports of SS without typical syndromic features. Hotspots listed as exons 41 and 42
Sources: Expert ReviewCreated: 17 Sep 2026, 1:23 p.m. | Last Modified: 17 Sep 2026, 1:23 p.m.
Panel Version: 2.9
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ACROMICRIC DYSPLASIA; GELEOPHYSIC DYSPLASIA 2; STIFF SKIN SYNDROME; WEILL-MARCHESANI SYNDROME 2
Publications
- PMID: 41543979
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- ACROMICRIC DYSPLASIA
- GELEOPHYSIC DYSPLASIA 2
- STIFF SKIN SYNDROME
- WEILL-MARCHESANI SYNDROME 2
- OMIM
- 134797
- Clinvar variants
- Variants in FBN1
- Penetrance
- Complete
- Publications
-
- PMID: 41543979
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Intellectual disability
- Osteogenesis imperfecta
- Bilateral congenital or childhood onset cataracts
- Cerebral vascular malformations
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Pneumothorax - familial
- Fetal anomalies
- Skeletal dysplasia
- Ehlers Danlos syndrome with a likely monogenic cause
- Thoracic aortic aneurysm or dissection (GMS)
- Severe insulin resistance and lipodystrophy syndromes
- Structural eye disease
- Thoracic aortic aneurysm or dissection
- DDG2P
- Monogenic short stature
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Melissa Connolly (WMRGL GLH)gene: FBN1 was added gene: FBN1 was added to Monogenic short stature. Sources: Expert Review Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBN1 were set to PMID: 41543979 Phenotypes for gene: FBN1 were set to ACROMICRIC DYSPLASIA; GELEOPHYSIC DYSPLASIA 2; STIFF SKIN SYNDROME; WEILL-MARCHESANI SYNDROME 2 Penetrance for gene: FBN1 were set to Complete Mode of pathogenicity for gene: FBN1 was set to Other Review for gene: FBN1 was set to GREEN