Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SRP72EnsemblGeneIds (GRCh38): ENSG00000174780
EnsemblGeneIds (GRCh37): ENSG00000174780
OMIM: 602122, Gene2Phenotype
SRP72 is in 5 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Several lines of conflicting evidence, including lack of relevant phenotype in mouse model, unaffected carriers and variants in other genes that could explain patient phenotypes - this means strongly corroborating evidence is required before this gene can be added to a diagnostic panel.Created: 30 Oct 2025, 12:02 p.m. | Last Modified: 30 Oct 2025, 12:02 p.m.
Panel Version: 8.67
- PMID: 31254415: Srp72+/- mice did not exhibit major haematological abnormalities.
- PMID: 40922878: 14yo with pruritus, pancytopenia, decreased bone marrow proliferation, low granulocyte proportion, increased erythrocyte proportion, and rare megakaryocytes. Heterozygous for c.1442_1448del, p.Ile481Thrfs*12 which was inherited from his unaffected 46yo father. This variant is absent from gnomad but there are more than 10 other NMD-predicted variants with >/=5 hets in gnomad.Created: 30 Oct 2025, 11:58 a.m. | Last Modified: 30 Oct 2025, 11:58 a.m.
Panel Version: 8.66
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Familial MDS/AML;inherited bone marrow failure syndromes (IBMFS);congenital neutropenia;Shwachman-Diamond syndromeCreated: 13 May 2025, 10:02 a.m. | Last Modified: 13 May 2025, 10:02 a.m.
Panel Version: 8.11
SRP72 variants have been associated with Bone marrow failure syndrome 1 (OMIM:614675). PMID: 22541560 report two monoallelic variants in two unrelated families, both variants segregated with the condition and supportive functional studies were given. In PMID: 29146883 four cases were reported with SRP72 variants. Case UB043 had a >9kb deletion encompassing SRP72. SRP72 was also deleted (4.5kb) in Case UB077, however, this patient also had two pathogenic variants in the SBDS gene (c.258+2T>G and c.184A>T, p.Lys62*). Two further cases had a SRP72 variant (c.28T>A, p.Ser10Thr) together with the SBDS variants mentioned above.Created: 13 May 2025, 10:01 a.m. | Last Modified: 13 May 2025, 10:01 a.m.
Panel Version: 8.9
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bone marrow failure syndrome 1, OMIM:614675; autosomal dominant aplasia and myelodysplasia, MONDO:0013851
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Bone marrow failure syndrome 1, OMIM:614675
- autosomal dominant aplasia and myelodysplasia, MONDO:0013851
- OMIM
- 602122
- Clinvar variants
- Variants in SRP72
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SRP72 were set to 22541560; 29146883; 32098966
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: srp72 has been classified as Amber List (Moderate Evidence).
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_25_ promote_green was removed from gene: SRP72. Tag Q2_25_expert_review was removed from gene: SRP72.
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_25_ promote_green tag was added to gene: SRP72. Tag Q2_25_expert_review tag was added to gene: SRP72.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SRP72 were changed from Familial MDS/AML; inherited bone marrow failure syndromes (IBMFS); congenital neutropenia; Shwachman-Diamond syndrome to Bone marrow failure syndrome 1, OMIM:614675; autosomal dominant aplasia and myelodysplasia, MONDO:0013851
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SRP72 were set to 32098966
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: srp72 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Lauma Freimane (Children's Clinical University Hospital)gene: SRP72 was added gene: SRP72 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature,Research Mode of inheritance for gene: SRP72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRP72 were set to 32098966 Phenotypes for gene: SRP72 were set to Familial MDS/AML; inherited bone marrow failure syndromes (IBMFS); congenital neutropenia; Shwachman-Diamond syndrome