AP4S1

adaptor related protein complex 4 sigma 1 subunit
OMIM: 607243, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green AP4S1 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 52, autosomal recessive developmental delay seizures
Amber AP4S1 in Severe microcephaly Level 2: Neurology Version 8.35 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia 52, autosomal recessive, OMIM:614067 Hereditary spastic paraplegia 52, MONDO:0013552
Green AP4S1 in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.41 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Expert list Radboud University Medical Center, Nijmegen Phenotypes developmental delay seizures Spastic paraplegia 52, autosomal recessive, 614067
Amber AP4S1 in Adult onset hereditary spastic paraplegia Level 2: Neurology Version 6.9 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes developmental delay seizures Spastic paraplegia 52, autosomal recessive, 614067
Red AP4S1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.20 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes developmental delay seizures Spastic paraplegia 52, autosomal recessive
Green AP4S1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS PAGE DD-Gene2Phenotype Phenotypes Spastic paraplegia 52, autosomal recessive, OMIM:614067
Green AP4S1 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 614067
Green AP4S1 in Intellectual disability Level 2: Developmental disorders Version 9.343 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 52, autosomal recessive, 614067 CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6