1. Panels
  2. Multiple pterygium syndrome_Fetal akinesia sequence
  3. CNTNAP1
STRs in panel
Prev Next
Regions in panel
Prev Next

Multiple pterygium syndrome_Fetal akinesia sequence

Gene: CNTNAP1

Green List (high evidence)
CNTNAP1 (contactin associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000108797
EnsemblGeneIds (GRCh37): ENSG00000108797
OMIM: 602346, Gene2Phenotype
CNTNAP1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported.
Sources: Expert Review
Created: 14 Jun 2021, 8:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 7, MIM# 616286; MONDO:0014569

Publications

Created: 14 Jun 2021, 8:11 a.m.

Panel version: 0.66

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Lethal congenital contracture syndrome 7, MIM# 616286
  • MONDO:0014569
OMIM
602346
Clinvar variants
Variants in CNTNAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cntnap1 has been classified as Green List (High Evidence).

14 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cntnap1 has been classified as Green List (High Evidence).

14 Jun 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CNTNAP1 was added gene: CNTNAP1 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTNAP1 were set to 24319099; 28254648 Phenotypes for gene: CNTNAP1 were set to Lethal congenital contracture syndrome 7, MIM# 616286; MONDO:0014569 Review for gene: CNTNAP1 was set to GREEN