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Mendeliome

Gene: SEMA7A

Amber List (moderate evidence)

SEMA7A (semaphorin 7A (John Milton Hagen blood group))
EnsemblGeneIds (GRCh38): ENSG00000138623
EnsemblGeneIds (GRCh37): ENSG00000138623
OMIM: 607961, Gene2Phenotype
SEMA7A is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Comment when marking as ready: AMBER for PFIC. RED for other associations.
Created: 14 Dec 2021, 9:39 a.m. | Last Modified: 14 Dec 2021, 9:39 a.m.
Panel Version: 0.10248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.

Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.

Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Homozygous mice recapitulated the patient phenotype.

Rated amber due to 1 patient and mouse model in PMID:34585848.
Created: 14 Dec 2021, 6:46 a.m. | Last Modified: 14 Dec 2021, 6:52 a.m.
Panel Version: 0.10244

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Decreased bone mineral density; Kallmann syndrome; progressive familial intrahepatic cholestasis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Decreased bone mineral density
  • Kallmann syndrome
  • Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874
OMIM
607961
Clinvar variants
Variants in SEMA7A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 May 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SEMA7A were changed from Decreased bone mineral density; Kallmann syndrome; progressive familial intrahepatic cholestasis to Decreased bone mineral density; Kallmann syndrome; Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874

14 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sema7a has been classified as Amber List (Moderate Evidence).

14 Dec 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SEMA7A were changed from to Decreased bone mineral density; Kallmann syndrome; progressive familial intrahepatic cholestasis

14 Dec 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SEMA7A were set to

14 Dec 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SEMA7A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

14 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sema7a has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SEMA7A was added gene: SEMA7A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SEMA7A was set to Unknown