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Severe microcephaly

Gene: AP4B1

Amber List (moderate evidence)

AP4B1 (adaptor related protein complex 4 beta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000134262
EnsemblGeneIds (GRCh37): ENSG00000134262
OMIM: 607245, Gene2Phenotype
AP4B1 is in 11 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Rating Amber but will be flagged for review at the next GMS panel update to assess whether clinical utility is sufficient for inclusion as Green (added 'for-review' tag).

Literature search revealed at least 24 unrelated published cases with biallelic variants in this gene. Microcephaly is commonly reported but often mild, and particularly in the context of other more prominent/universal features (ID, HSP, etc) this disorder may be better represented by other panels.

Nonetheless, microcephaly of relevant severity to this panel (OFC ≤ -3 SD) has been recorded in at least 8 unrelated families which reaches the threshold for inclusion (PMIDs: 21620353; 29193663; 30337681; 32166732)
Created: 5 Jan 2021, 1:15 p.m. | Last Modified: 5 Jan 2021, 1:15 p.m.
Panel Version: 2.60

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Microcephaly is an early, prominent presenting feature of this progressive neurological disorder. At least 4 unrelated families reported.
Sources: Expert list
Created: 30 Aug 2020, 5:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 47, autosomal recessive, MIM# 614066

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Spastic paraplegia 47, autosomal recessive, OMIM:614066
  • Hereditary spastic paraplegia 47, MONDO:0013551
Tags
for-review
OMIM
607245
Clinvar variants
Variants in AP4B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive, MIM# 614066 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551

5 Jan 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758

5 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ap4b1 has been classified as Amber List (Moderate Evidence).

5 Jan 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: AP4B1.

30 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: AP4B1 was added gene: AP4B1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758 Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066 Review for gene: AP4B1 was set to GREEN gene: AP4B1 was marked as current diagnostic