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| Early onset or syndromic epilepsy v1.191 | PSAP | Rebecca Foulger Source Wessex and West Midlands GLH was added to PSAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.190 | PSAP | Rebecca Foulger Source NHS GMS was added to PSAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.189 | PSAP | Rebecca Foulger reviewed gene: PSAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1413 | PSAP | Eleanor Williams Classified gene: PSAP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1413 | PSAP | Eleanor Williams Gene: psap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1412 | PSAP | Eleanor Williams Phenotypes for gene: PSAP were changed from to Combined SAP deficiency 611721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1411 | PSAP | Eleanor Williams Publications for gene: PSAP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1410 | PSAP | Eleanor Williams Mode of inheritance for gene: PSAP was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1407 | PSAP | Eleanor Williams Classified gene: PSAP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1407 | PSAP | Eleanor Williams Gene: psap has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy 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. |
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| Early onset or syndromic epilepsy 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. |
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| Early onset or syndromic epilepsy v0.1404 | PSAP | Eleanor Williams commented on gene: PSAP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy | PSAP | Zornitza Stark reviewed gene: PSAP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy | PSAP | Sarah Leigh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||