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Fetal anomalies

Gene: AP4B1

Green List (high evidence)

AP4B1 (adaptor related protein complex 4 beta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000134262
EnsemblGeneIds (GRCh37): ENSG00000134262
OMIM: 607245, Gene2Phenotype
AP4B1 is in 13 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe neurodegenerative disorder with onset at birth. Congenital anomalies reported include microcephaly, contractures, thin corpus callosum, ventriculomegaly and white matter abnormalities.
Created: 2 Mar 2022, 11:20 p.m. | Last Modified: 2 Mar 2022, 11:20 p.m.
Panel Version: 0.4682

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 47, autosomal recessive, MIM# 614066

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 10 unrelated families reported.

Microcephaly and ventriculomegaly are features.
Created: 13 Mar 2021, 7:23 a.m. | Last Modified: 5 Dec 2021, 10:17 p.m.
Panel Version: 0.946

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 47, autosomal recessive, MIM# 614066

Publications

Details

Mode of Inheritance
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
OMIM
607245
Clinvar variants
Variants in AP4B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap4b1 has been classified as Green List (High Evidence).

5 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 3152572521620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 31525725

5 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP4B1 were set to

5 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap4b1 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AP4B1 was added gene: AP4B1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551