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  3. ANTXR2
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Fetal anomalies

Gene: ANTXR2

Green List (high evidence)
ANTXR2 (anthrax toxin receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000163297
EnsemblGeneIds (GRCh37): ENSG00000163297
OMIM: 608041, Gene2Phenotype
ANTXR2 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hyaline fibromatosis syndrome is an autosomal recessive condition characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. The severity is variable. Some individuals present in infancy and have additional visceral or systemic involvement, which can lead to early death. These patients may show intractable diarrhea and increased susceptibility to infection. Other patients have later onset of a milder disorder affecting only the face and digits. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Histologic analysis of skin lesions shows proliferation of spindle-shaped cells forming strands in a homogeneous and hyaline eosinophilic extracellular material in the dermis.

Severe perinatal course reported in many families.

Well established gene-disease association.
Created: 5 Dec 2021, 9:56 p.m. | Last Modified: 5 Dec 2021, 9:56 p.m.
Panel Version: 0.942

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229

Publications

Created: 5 Dec 2021, 9:56 p.m.
Last Modified: 5 Dec 2021, 9:56 p.m.
Panel version: 0.942

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hyaline fibromatosis syndrome, MIM# 228600
  • MONDO:0009229
OMIM
608041
Clinvar variants
Variants in ANTXR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: antxr2 has been classified as Green List (High Evidence).

5 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANTXR2 were changed from Hyaline fibromatosis syndrome 228600 to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229

5 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: antxr2 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANTXR2 was added gene: ANTXR2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANTXR2 were set to 30176098; 20301698; 14508707 Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome 228600