BRIDGE_SPEED_NEURO_20170705
Gene: FAM111B

FAM111B (family with sequence similarity 111 member B)
EnsemblGeneIds (GRCh38): ENSG00000189057
EnsemblGeneIds (GRCh37): ENSG00000189057
OMIM: 615584, Gene2Phenotype
FAM111B is in 5 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_omim_20150205_movement . Main mutation mechanism : NA
Created: 28 Jul 2017, 9:06 a.m.

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

Publications

omim.org

Created: 2 Aug 2017, 3 p.m.

Panel version: 0.191

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704

OMIM

615584

Clinvar variants

Variants in FAM111B

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

FAM111B was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source