AP4B1

adaptor related protein complex 4 beta 1 subunit
OMIM: 607245, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green AP4B1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 47, autosomal recessive, MIM# 614066
Green AP4B1 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 47, autosomal recessive, MIM# 614066
Green AP4B1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.357	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 47, autosomal recessive, MIM# 614066
Green AP4B1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Spastic paraplegia 47, autosomal recessive, MIM# 614066
Red AP4B1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 47, autosomal recessive, MIM# 614066
Green AP4B1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia 47, autosomal recessive, MIM# 614066
Green AP4B1 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.333 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 47, autosomal recessive MIM#614066
Green AP4B1 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.102 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 47, autosomal recessive, 614066
Green AP4B1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 47, autosomal recessive, 614066 (3)
Green AP4B1 in Additional findings_Paediatric Level 2: Screening Version 0.278	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Spastic paraplegia 47, autosomal recessive, MIM# 614066
Green AP4B1 in Fetal anomalies Version 1.465	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066 Hereditary spastic paraplegia 47, MONDO:0013551
Green AP4B1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 47, autosomal recessive, 614066 (3)
Red AP4B1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Spastic paraplegia 47, autosomal recessive, MIM# 614066