Paediatric pseudo-obstruction syndrome

Gene: FOCAD

Red List (low evidence)

The rating of this gene has been updated to Red and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.

Panel Version: 0.216

The rating for this gene should be RED as the evidence was from 33 members of a single family sharing a male ancestor. The disorder is linked to a 9.7 Mb region in Ch9 including a 1.2 Mb duplication with breaking point in the FOCAD-gene. 14 of 33 members were duplication carriers and chronic intestinal symptoms including diarrhoea occurred in 11 members, while four had severe chronic intestinal pseudo-obstruction (CIP).

This gene-disease association is not yet reported in OMIM or Gene2Phenotype.

Created: 20 Dec 2022, 10:38 p.m. | Last Modified: 20 Dec 2022, 10:38 p.m.

Panel Version: 0.34

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Chronic intestinal pseudoobstruction, MONDO:0017574

Publications

• 31814461

Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Other. Protein function: Focadhesin;HGNC: 23377.

Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.

Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
familial intestinal degenerative neuropathy

Publications

• 31814461