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Genetic epilepsy syndromes v1.191 PSAP Rebecca Foulger Source Wessex and West Midlands GLH was added to PSAP.
Genetic epilepsy syndromes v1.190 PSAP Rebecca Foulger Source NHS GMS was added to PSAP.
Genetic epilepsy syndromes v1.189 PSAP Rebecca Foulger reviewed gene: PSAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genetic epilepsy syndromes v1.188 PSAP Tracy Lester reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 19267410; Phenotypes: Combined SAP deficiency 611721, Gaucher disease, atypical 610539, Krabbe disease, atypical 611722, Metachromatic leukodystrophy due to SAP-b deficiency 249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic epilepsy syndromes v0.1413 PSAP Eleanor Williams Classified gene: PSAP as Green List (high evidence)
Genetic epilepsy syndromes v0.1413 PSAP Eleanor Williams Added comment: Comment on list classification: Promoting to green after gaining access to PMID: 2514102 and confirming a second case of a patient showing seizures, which along with the mouse knockout model confirms the association with seizures. In addition there is a green expert review.
Genetic epilepsy syndromes v0.1413 PSAP Eleanor Williams Gene: psap has been classified as Green List (High Evidence).
Genetic epilepsy syndromes v0.1412 PSAP Eleanor Williams Added comment: Comment on phenotypes: Only added Combined SAP deficiency as a phenotype as evidence for seizures only found for this disorder.
Genetic epilepsy syndromes v0.1412 PSAP Eleanor Williams Phenotypes for gene: PSAP were changed from to Combined SAP deficiency 611721
Genetic epilepsy syndromes v0.1411 PSAP Eleanor Williams Publications for gene: PSAP were set to
Genetic epilepsy syndromes v0.1410 PSAP Eleanor Williams Mode of inheritance for gene: PSAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Genetic epilepsy syndromes v0.1407 PSAP Eleanor Williams Classified gene: PSAP as Amber List (moderate evidence)
Genetic epilepsy syndromes v0.1407 PSAP Eleanor Williams Added comment: Comment on list classification: Keeping Amber rating, as only 1 confirmed case of a variant in PSAP in a n individual with seizures. A mouse model which does develop seizures also exists.
Genetic epilepsy syndromes v0.1407 PSAP Eleanor Williams Gene: psap has been classified as Amber List (Moderate Evidence).
Genetic epilepsy syndromes v0.1406 PSAP Eleanor Williams commented on gene: PSAP: A mouse SAP -/- knockout exists (PMID: 8776585) and surviving mice develop intermittent seizures and progress to continual tonic status epilepticus.
Genetic epilepsy syndromes v0.1404 PSAP Eleanor Williams commented on gene: PSAP: Metachromatic leukodystrophy due to SAP-b deficiency
2 cases of children with variants in PSAP and saposin B deficiency have been reported in PMID: 8554069 (Henseler et al. 1996) and PMID: 10682309 (Wrobe et al. 2000). Neither child was reported to have seizures.
Genetic epilepsy syndromes v0.1404 PSAP Eleanor Williams commented on gene: PSAP: Combined SAP deficiency
PMIDs: 2514102 (Harzer et al. 1989) and 1371116 (Schnabel et al. 1992) report 2 sibs with combined SAP deficiency with a homozygous mutation resulting in a M1L substitution. No precursor and no mature SAPs were detected in the patient's cells. Both parents were heterozygous for the mutation. Can't access full text for PMID: 2514102 to assess phenotype.

PMID: 11309366 (Hulkova et al. 2001) - In a Slovakian patient with fatal infantile combined SAP deficiency, a homozygous for a 1 bp deletion in the PSAP gene, inherited from both his parents . Immunohistochemical investigations indicated that saposins A, B, C, and D were all deficient. Generalized seizures developed within minutes of birth.
Genetic epilepsy syndromes v0.1404 PSAP Eleanor Williams commented on gene: PSAP
Genetic epilepsy syndromes PSAP Zornitza Stark reviewed gene: PSAP
Genetic epilepsy syndromes PSAP Sarah Leigh Added gene to panel